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Study ID | Variant ID | Variant Region type | Variant Call type | Sampleset ID | Method | Analysis ID | Validation | Variant samples | Subject phenotype | Clinical Interpretation | Assembly | Accession | Chr | Outer-Start | Start | Inner-Start | Inner-End | End | Outer-End | Placement Type | Remap Score |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
nstd177 | nssv15768580 | deletion | PCR | Sequence alignment | No | NA19223 | GRCh37 (hg19) | NC_000004.11 | 4 | 144835143 | 144835279 | 144945375 | 144945517 | Submitted genomic | |||||||
nstd177 | nssv15768580 | deletion | PCR | Sequence alignment | No | NA19223 | GRCh37 (hg19) | NC_000004.11 | 4 | 144835143 | 144835279 | 144945375 | 144945517 | Submitted genomic | |||||||
nstd177 | nssv15768580 | deletion | PCR | Sequence alignment | No | NA19223 | GRCh38.p12 | NC_000004.12 | 4 | 143913990 | 143914126 | 144024222 | 144024364 | Remapped | 1 | ||||||
nstd177 | nssv15768581 | deletion | PCR | Sequence alignment | No | NA19144 | GRCh37 (hg19) | NC_000004.11 | 4 | 144912872 | 144913001 | 145016127 | 145016256 | Submitted genomic | |||||||
nstd177 | nssv15768581 | deletion | PCR | Sequence alignment | No | NA19144 | GRCh37 (hg19) | NC_000004.11 | 4 | 144912872 | 144913001 | 145016127 | 145016256 | Submitted genomic | |||||||
nstd177 | nssv15768581 | deletion | PCR | Sequence alignment | No | NA19144 | GRCh38.p12 | NC_000004.12 | 4 | 143991719 | 143991848 | 144094974 | 144095103 | Remapped | 1 | ||||||
nstd177 | nssv15768582 | deletion | Sequencing | Read depth | No | NA20867 | GRCh37 (hg19) | NC_000004.11 | 4 | 144925739 | 144935739 | 145035739 | 145045739 | Submitted genomic | |||||||
nstd177 | nssv15768582 | deletion | Sequencing | Read depth | No | NA20867 | GRCh37 (hg19) | NC_000004.11 | 4 | 144925739 | 144935739 | 145035739 | 145045739 | Submitted genomic | |||||||
nstd177 | nssv15768582 | deletion | Sequencing | Read depth | No | NA20867 | GRCh38.p12 | NC_000004.12 | 4 | 144004586 | 144014586 | 144114586 | 144124586 | Remapped | 1 | ||||||
nstd177 | nssv15768583 | deletion | Sequencing | Read depth | No | HG01986 | GRCh37 (hg19) | NC_000004.11 | 4 | 144750739 | 144760739 | 144950739 | 144960739 | Submitted genomic | |||||||
nstd177 | nssv15768583 | deletion | Sequencing | Read depth | No | HG01986 | GRCh37 (hg19) | NC_000004.11 | 4 | 144750739 | 144760739 | 144950739 | 144960739 | Submitted genomic | |||||||
nstd177 | nssv15768583 | deletion | Sequencing | Read depth | No | HG01986 | GRCh38.p12 | NC_000004.12 | 4 | 143829586 | 143839586 | 144029586 | 144039586 | Remapped | 1 | ||||||
nstd177 | nssv15768584 | deletion | PCR | Sequence alignment | No | HG04039 | GRCh37 (hg19) | NC_000004.11 | 4 | 144780045 | 144780137 | 145004120 | 145004212 | Submitted genomic | |||||||
nstd177 | nssv15768584 | deletion | PCR | Sequence alignment | No | HG04039 | GRCh37 (hg19) | NC_000004.11 | 4 | 144780045 | 144780137 | 145004120 | 145004212 | Submitted genomic | |||||||
nstd177 | nssv15768584 | deletion | PCR | Sequence alignment | No | HG04039 | GRCh38.p12 | NC_000004.12 | 4 | 143858892 | 143858984 | 144082967 | 144083059 | Remapped | 1 | ||||||
nstd177 | nssv15768585 | deletion | PCR | Sequence alignment | No | HG02716 | GRCh37 (hg19) | NC_000004.11 | 4 | 144780111 | 144780497 | 144900945 | 144901334 | Submitted genomic | |||||||
nstd177 | nssv15768585 | deletion | PCR | Sequence alignment | No | HG02716 | GRCh37 (hg19) | NC_000004.11 | 4 | 144780111 | 144780497 | 144900945 | 144901334 | Submitted genomic | |||||||
nstd177 | nssv15768585 | deletion | PCR | Sequence alignment | No | HG02716 | GRCh38.p12 | NC_000004.12 | 4 | 143858958 | 143859344 | 143979792 | 143980181 | Remapped | 1 | ||||||
nstd177 | nssv15768586 | deletion | Sequencing | Read depth | No | HGDP01172 | GRCh37 (hg19) | NC_000004.11 | 4 | 144800739 | 144802739 | 144920739 | 144922739 | Submitted genomic | |||||||
nstd177 | nssv15768586 | deletion | Sequencing | Read depth | No | HGDP01172 | GRCh37 (hg19) | NC_000004.11 | 4 | 144800739 | 144802739 | 144920739 | 144922739 | Submitted genomic | |||||||
nstd177 | nssv15768586 | deletion | Sequencing | Read depth | No | HGDP01172 | GRCh38.p12 | NC_000004.12 | 4 | 143879586 | 143881586 | 143999586 | 144001586 | Remapped | 1 | ||||||
nstd177 | nssv15768587 | deletion | Sequencing | Read depth | No | BR1296010301 | GRCh37 (hg19) | NC_000004.11 | 4 | 144752739 | 144754739 | 144952739 | 144954739 | Submitted genomic | |||||||
nstd177 | nssv15768587 | deletion | Sequencing | Read depth | No | BR1296010301 | GRCh37 (hg19) | NC_000004.11 | 4 | 144752739 | 144754739 | 144952739 | 144954739 | Submitted genomic | |||||||
nstd177 | nssv15768587 | deletion | Sequencing | Read depth | No | BR1296010301 | GRCh38.p12 | NC_000004.12 | 4 | 143831586 | 143833586 | 144031586 | 144033586 | Remapped | 1 | ||||||
nstd177 | nssv15768588 | deletion | Sequencing | Read depth | No | BR1183605501 | GRCh37 (hg19) | NC_000004.11 | 4 | 144882739 | 144987739 | 144984739 | 144987739 | Submitted genomic | |||||||
nstd177 | nssv15768588 | deletion | Sequencing | Read depth | No | BR1183605501 | GRCh37 (hg19) | NC_000004.11 | 4 | 144882739 | 144987739 | 144984739 | 144987739 | Submitted genomic | |||||||
nstd177 | nssv15768588 | deletion | Sequencing | Read depth | No | BR1183605501 | GRCh38.p12 | NC_000004.12 | 4 | 143961586 | 144066586 | 144063586 | 144066586 | Remapped | 1 | ||||||
nstd177 | nssv15768589 | deletion | Sequencing | Read depth | No | BR1099223302 | GRCh37 (hg19) | NC_000004.11 | 4 | 144755739 | 144757739 | 144875739 | 144878739 | Submitted genomic | |||||||
nstd177 | nssv15768589 | deletion | Sequencing | Read depth | No | BR1099223302 | GRCh37 (hg19) | NC_000004.11 | 4 | 144755739 | 144757739 | 144875739 | 144878739 | Submitted genomic | |||||||
nstd177 | nssv15768589 | deletion | Sequencing | Read depth | No | BR1099223302 | GRCh38.p12 | NC_000004.12 | 4 | 143834586 | 143836586 | 143954586 | 143957586 | Remapped | 1 | ||||||
nstd177 | nssv15768590 | duplication | PCR | Sequence alignment | No | NA18593 | GRCh37 (hg19) | NC_000004.11 | 4 | 144919739 | 144921739 | 145039739 | 145041739 | Submitted genomic | |||||||
nstd177 | nssv15768590 | duplication | PCR | Sequence alignment | No | NA18593 | GRCh37 (hg19) | NC_000004.11 | 4 | 144919739 | 144921739 | 145039739 | 145041739 | Submitted genomic | |||||||
nstd177 | nssv15768590 | duplication | PCR | Sequence alignment | No | NA18593 | GRCh38.p12 | NC_000004.12 | 4 | 143998586 | 144000586 | 144118586 | 144120586 | Remapped | 1 | ||||||
nstd177 | nssv15768591 | duplication | PCR | Sequence alignment | No | NA19360 | GRCh37 (hg19) | NC_000004.11 | 4 | 144780388 | 144780449 | 145004465 | 145004526 | Submitted genomic | |||||||
nstd177 | nssv15768591 | duplication | PCR | Sequence alignment | No | NA19360 | GRCh37 (hg19) | NC_000004.11 | 4 | 144780388 | 144780449 | 145004465 | 145004526 | Submitted genomic | |||||||
nstd177 | nssv15768591 | duplication | PCR | Sequence alignment | No | NA19360 | GRCh38.p12 | NC_000004.12 | 4 | 143859235 | 143859296 | 144083312 | 144083373 | Remapped | 1 | ||||||
nstd177 | nssv15768592 | duplication | Sequencing | Read depth | No | HG02679 | GRCh37 (hg19) | NC_000004.11 | 4 | 144775000 | 144785000 | 144895000 | 144905000 | Submitted genomic | |||||||
nstd177 | nssv15768592 | duplication | Sequencing | Read depth | No | HG02679 | GRCh37 (hg19) | NC_000004.11 | 4 | 144775000 | 144785000 | 144895000 | 144905000 | Submitted genomic | |||||||
nstd177 | nssv15768592 | duplication | Sequencing | Read depth | No | HG02679 | GRCh38.p12 | NC_000004.12 | 4 | 143853847 | 143863847 | 143973847 | 143983847 | Remapped | 1 | ||||||
nstd177 | nssv15768593 | duplication | Sequencing | Read depth | No | HG03837 | GRCh37 (hg19) | NC_000004.11 | 4 | 144808739 | 144810739 | 145045739 | 145048739 | Submitted genomic | |||||||
nstd177 | nssv15768593 | duplication | Sequencing | Read depth | No | HG03837 | GRCh37 (hg19) | NC_000004.11 | 4 | 144808739 | 144810739 | 145045739 | 145048739 | Submitted genomic | |||||||
nstd177 | nssv15768593 | duplication | Sequencing | Read depth | No | HG03837 | GRCh38.p12 | NC_000004.12 | 4 | 143887586 | 143889586 | 144124586 | 144127586 | Remapped | 1 | ||||||
nstd177 | nssv15768594 | duplication | PCR | Sequence alignment | No | NA18646 | GRCh37 (hg19) | NC_000004.11 | 4 | 144723019 | 144723094 | 144853613 | 144853688 | Submitted genomic | |||||||
nstd177 | nssv15768594 | duplication | PCR | Sequence alignment | No | NA18646 | GRCh37 (hg19) | NC_000004.11 | 4 | 144723019 | 144723094 | 144853613 | 144853688 | Submitted genomic | |||||||
nstd177 | nssv15768594 | duplication | PCR | Sequence alignment | No | NA18646 | GRCh38.p12 | NC_000004.12 | 4 | 143801866 | 143801941 | 143932460 | 143932535 | Remapped | 1 | ||||||
nstd177 | nssv15768595 | duplication | Sequencing | Read depth | No | BR210800138 | GRCh37 (hg19) | NC_000004.11 | 4 | 144881739 | 144884739 | 144926739 | 144929739 | Submitted genomic | |||||||
nstd177 | nssv15768595 | duplication | Sequencing | Read depth | No | BR210800138 | GRCh37 (hg19) | NC_000004.11 | 4 | 144881739 | 144884739 | 144926739 | 144929739 | Submitted genomic | |||||||
nstd177 | nssv15768595 | duplication | Sequencing | Read depth | No | BR210800138 | GRCh38.p12 | NC_000004.12 | 4 | 143960586 | 143963586 | 144005586 | 144008586 | Remapped | 1 | ||||||
nstd177 | nssv15768596 | duplication | Sequencing | Read depth | No | HG03729 | GRCh37 (hg19) | NC_000004.11 | 4 | 144830739 | 144840739 | 145065739 | 145075739 | Submitted genomic | |||||||
nstd177 | nssv15768596 | duplication | Sequencing | Read depth | No | HG03729 | GRCh37 (hg19) | NC_000004.11 | 4 | 144830739 | 144840739 | 145065739 | 145075739 | Submitted genomic | |||||||
nstd177 | nssv15768596 | duplication | Sequencing | Read depth | No | HG03729 | GRCh38.p12 | NC_000004.12 | 4 | 143909586 | 143919586 | 144144586 | 144154586 | Remapped | 1 | ||||||
nstd177 | nssv15768597 | duplication | PCR | Sequence alignment | No | NA12249 | GRCh37 (hg19) | NC_000004.11 | 4 | 144919739 | 144921739 | 145039739 | 145041739 | Submitted genomic | |||||||
nstd177 | nssv15768597 | duplication | PCR | Sequence alignment | No | NA12249 | GRCh37 (hg19) | NC_000004.11 | 4 | 144919739 | 144921739 | 145039739 | 145041739 | Submitted genomic | |||||||
nstd177 | nssv15768597 | duplication | PCR | Sequence alignment | No | NA12249 | GRCh38.p12 | NC_000004.12 | 4 | 143998586 | 144000586 | 144118586 | 144120586 | Remapped | 1 | ||||||
nstd177 | nssv15768598 | duplication | PCR | Sequence alignment | No | HG03686 | GRCh37 (hg19) | NC_000004.11 | 4 | 144825584 | 144825643 | 144939393 | 144939452 | Submitted genomic | |||||||
nstd177 | nssv15768598 | duplication | PCR | Sequence alignment | No | HG03686 | GRCh37 (hg19) | NC_000004.11 | 4 | 144825584 | 144825643 | 144939393 | 144939452 | Submitted genomic | |||||||
nstd177 | nssv15768598 | duplication | PCR | Sequence alignment | No | HG03686 | GRCh38.p12 | NC_000004.12 | 4 | 143904431 | 143904490 | 144018240 | 144018299 | Remapped | 1 | ||||||
nstd177 | nssv15768599 | duplication | Sequencing | Read depth | No | HGDP00543 | GRCh37 (hg19) | NC_000004.11 | 4 | 144885739 | 144887739 | 144989739 | 144991739 | Submitted genomic | |||||||
nstd177 | nssv15768599 | duplication | Sequencing | Read depth | No | HGDP00543 | GRCh37 (hg19) | NC_000004.11 | 4 | 144885739 | 144887739 | 144989739 | 144991739 | Submitted genomic | |||||||
nstd177 | nssv15768599 | duplication | Sequencing | Read depth | No | HGDP00543 | GRCh38.p12 | NC_000004.12 | 4 | 143964586 | 143966586 | 144068586 | 144070586 | Remapped | 1 | ||||||
nstd177 | nssv15768600 | duplication | Sequencing | Read depth | No | BR54409051 | GRCh37 (hg19) | NC_000004.11 | 4 | 144849739 | 144851739 | 144959739 | 144962739 | Submitted genomic | |||||||
nstd177 | nssv15768600 | duplication | Sequencing | Read depth | No | BR54409051 | GRCh37 (hg19) | NC_000004.11 | 4 | 144849739 | 144851739 | 144959739 | 144962739 | Submitted genomic | |||||||
nstd177 | nssv15768600 | duplication | Sequencing | Read depth | No | BR54409051 | GRCh38.p12 | NC_000004.12 | 4 | 143928586 | 143930586 | 144038586 | 144041586 | Remapped | 1 | ||||||
nstd177 | nssv15768601 | duplication | Sequencing | Read depth | No | BR1086675791 | GRCh37 (hg19) | NC_000004.11 | 4 | 144900739 | 144902739 | 145002739 | 145004739 | Submitted genomic | |||||||
nstd177 | nssv15768601 | duplication | Sequencing | Read depth | No | BR1086675791 | GRCh37 (hg19) | NC_000004.11 | 4 | 144900739 | 144902739 | 145002739 | 145004739 | Submitted genomic | |||||||
nstd177 | nssv15768601 | duplication | Sequencing | Read depth | No | BR1086675791 | GRCh38.p12 | NC_000004.12 | 4 | 143979586 | 143981586 | 144081586 | 144083586 | Remapped | 1 | ||||||
nstd177 | nssv15768602 | duplication | Sequencing | Read depth | No | BR981404021 | GRCh37 (hg19) | NC_000004.11 | 4 | 144758739 | 144760739 | 144878739 | 144880739 | Submitted genomic | |||||||
nstd177 | nssv15768602 | duplication | Sequencing | Read depth | No | BR981404021 | GRCh37 (hg19) | NC_000004.11 | 4 | 144758739 | 144760739 | 144878739 | 144880739 | Submitted genomic | |||||||
nstd177 | nssv15768602 | duplication | Sequencing | Read depth | No | BR981404021 | GRCh38.p12 | NC_000004.12 | 4 | 143837586 | 143839586 | 143957586 | 143959586 | Remapped | 1 | ||||||
nstd177 | nsv4449705 | copy number variation | No | GRCh37 (hg19) | NC_000004.11 | 4 | 144919739 | 144921739 | 145039739 | 145041739 | Submitted genomic | ||||||||||
nstd177 | nsv4449705 | copy number variation | No | GRCh37 (hg19) | NC_000004.11 | 4 | 144919739 | 144921739 | 145039739 | 145041739 | Submitted genomic | ||||||||||
nstd177 | nsv4449705 | copy number variation | No | GRCh38.p12 | NC_000004.12 | 4 | 143998586 | 144000586 | 144118586 | 144120586 | Remapped | 1 | |||||||||
nstd177 | nsv4449706 | copy number variation | No | GRCh37 (hg19) | NC_000004.11 | 4 | 144723019 | 144723094 | 144853613 | 144853688 | Submitted genomic | ||||||||||
nstd177 | nsv4449706 | copy number variation | No | GRCh37 (hg19) | NC_000004.11 | 4 | 144723019 | 144723094 | 144853613 | 144853688 | Submitted genomic | ||||||||||
nstd177 | nsv4449706 | copy number variation | No | GRCh38.p12 | NC_000004.12 | 4 | 143801866 | 143801941 | 143932460 | 143932535 | Remapped | 1 | |||||||||
nstd177 | nsv4449707 | copy number variation | No | GRCh37 (hg19) | NC_000004.11 | 4 | 144750739 | 144760739 | 144950739 | 144960739 | Submitted genomic | ||||||||||
nstd177 | nsv4449707 | copy number variation | No | GRCh37 (hg19) | NC_000004.11 | 4 | 144750739 | 144760739 | 144950739 | 144960739 | Submitted genomic | ||||||||||
nstd177 | nsv4449707 | copy number variation | No | GRCh38.p12 | NC_000004.12 | 4 | 143829586 | 143839586 | 144029586 | 144039586 | Remapped | 1 | |||||||||
nstd177 | nsv4449708 | copy number variation | No | GRCh37 (hg19) | NC_000004.11 | 4 | 144752739 | 144754739 | 144952739 | 144954739 | Submitted genomic | ||||||||||
nstd177 | nsv4449708 | copy number variation | No | GRCh37 (hg19) | NC_000004.11 | 4 | 144752739 | 144754739 | 144952739 | 144954739 | Submitted genomic | ||||||||||
nstd177 | nsv4449708 | copy number variation | No | GRCh38.p12 | NC_000004.12 | 4 | 143831586 | 143833586 | 144031586 | 144033586 | Remapped | 1 | |||||||||
nstd177 | nsv4449709 | copy number variation | No | GRCh37 (hg19) | NC_000004.11 | 4 | 144755739 | 144757739 | 144875739 | 144878739 | Submitted genomic | ||||||||||
nstd177 | nsv4449709 | copy number variation | No | GRCh37 (hg19) | NC_000004.11 | 4 | 144755739 | 144757739 | 144875739 | 144878739 | Submitted genomic | ||||||||||
nstd177 | nsv4449709 | copy number variation | No | GRCh38.p12 | NC_000004.12 | 4 | 143834586 | 143836586 | 143954586 | 143957586 | Remapped | 1 | |||||||||
nstd177 | nsv4449710 | copy number variation | No | GRCh37 (hg19) | NC_000004.11 | 4 | 144758739 | 144760739 | 144878739 | 144880739 | Submitted genomic | ||||||||||
nstd177 | nsv4449710 | copy number variation | No | GRCh37 (hg19) | NC_000004.11 | 4 | 144758739 | 144760739 | 144878739 | 144880739 | Submitted genomic | ||||||||||
nstd177 | nsv4449710 | copy number variation | No | GRCh38.p12 | NC_000004.12 | 4 | 143837586 | 143839586 | 143957586 | 143959586 | Remapped | 1 | |||||||||
nstd177 | nsv4449711 | copy number variation | No | GRCh37 (hg19) | NC_000004.11 | 4 | 144775000 | 144785000 | 144895000 | 144905000 | Submitted genomic | ||||||||||
nstd177 | nsv4449711 | copy number variation | No | GRCh37 (hg19) | NC_000004.11 | 4 | 144775000 | 144785000 | 144895000 | 144905000 | Submitted genomic | ||||||||||
nstd177 | nsv4449711 | copy number variation | No | GRCh38.p12 | NC_000004.12 | 4 | 143853847 | 143863847 | 143973847 | 143983847 | Remapped | 1 | |||||||||
nstd177 | nsv4449712 | copy number variation | No | GRCh37 (hg19) | NC_000004.11 | 4 | 144900739 | 144902739 | 145002739 | 145004739 | Submitted genomic | ||||||||||
nstd177 | nsv4449712 | copy number variation | No | GRCh37 (hg19) | NC_000004.11 | 4 | 144900739 | 144902739 | 145002739 | 145004739 | Submitted genomic | ||||||||||
nstd177 | nsv4449712 | copy number variation | No | GRCh38.p12 | NC_000004.12 | 4 | 143979586 | 143981586 | 144081586 | 144083586 | Remapped | 1 | |||||||||
nstd177 | nsv4449713 | copy number variation | No | GRCh37 (hg19) | NC_000004.11 | 4 | 144912872 | 144913001 | 145016127 | 145016256 | Submitted genomic | ||||||||||
nstd177 | nsv4449713 | copy number variation | No | GRCh37 (hg19) | NC_000004.11 | 4 | 144912872 | 144913001 | 145016127 | 145016256 | Submitted genomic | ||||||||||
nstd177 | nsv4449713 | copy number variation | No | GRCh38.p12 | NC_000004.12 | 4 | 143991719 | 143991848 | 144094974 | 144095103 | Remapped | 1 | |||||||||
nstd177 | nsv4449714 | copy number variation | No | GRCh37 (hg19) | NC_000004.11 | 4 | 144925739 | 144935739 | 145035739 | 145045739 | Submitted genomic | ||||||||||
nstd177 | nsv4449714 | copy number variation | No | GRCh37 (hg19) | NC_000004.11 | 4 | 144925739 | 144935739 | 145035739 | 145045739 | Submitted genomic | ||||||||||
nstd177 | nsv4449714 | copy number variation | No | GRCh38.p12 | NC_000004.12 | 4 | 144004586 | 144014586 | 144114586 | 144124586 | Remapped | 1 | |||||||||
nstd177 | nsv4449715 | copy number variation | No | GRCh37 (hg19) | NC_000004.11 | 4 | 144830739 | 144840739 | 145065739 | 145075739 | Submitted genomic |