nsv6630883
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:34
- Validation:Not tested
- Clinical Assertions: No
- Region Size:38,963
- Publication(s):Zarrei et al. 2023
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1653 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 1653 SVs from 94 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6630883 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 777,018 | 815,980 |
nsv6630883 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 777,133 | 816,095 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18303464 | duplication | OSC6040 | SNP array | Probe signal intensity | 7 |
nssv18303536 | duplication | OSC5900 | SNP array | Probe signal intensity | 11 |
nssv18304454 | duplication | OSC6087 | SNP array | Probe signal intensity | 9 |
nssv18304464 | duplication | OSC6101 | SNP array | Probe signal intensity | 6 |
nssv18304505 | duplication | OSC6145 | SNP array | Probe signal intensity | 8 |
nssv18304663 | deletion | OSC6236 | SNP array | Probe signal intensity | 12 |
nssv18304758 | duplication | OSC6109 | SNP array | Probe signal intensity | 7 |
nssv18305475 | duplication | OSC6422 | SNP array | Probe signal intensity | 5 |
nssv18305976 | deletion | OSC6310 | SNP array | Probe signal intensity | nssv18305082, nssv18305679, nssv18305680 |
nssv18308397 | deletion | OSC6922 | SNP array | Probe signal intensity | 8 |
nssv18308605 | duplication | OSC6857 | SNP array | Probe signal intensity | 9 |
nssv18309430 | duplication | OSC7008 | SNP array | Probe signal intensity | 11 |
nssv18309594 | duplication | OSC7105 | SNP array | Probe signal intensity | 12 |
nssv18310023 | deletion | OSC7126 | SNP array | Probe signal intensity | 7 |
nssv18310362 | duplication | OSC7206 | SNP array | Probe signal intensity | 7 |
nssv18310438 | duplication | OSC7254 | SNP array | Probe signal intensity | 9 |
nssv18310575 | duplication | OSC7135 | SNP array | Probe signal intensity | 9 |
nssv18310796 | duplication | OSC7288 | SNP array | Probe signal intensity | 10 |
nssv18311732 | deletion | OSC7468 | SNP array | Probe signal intensity | 9 |
nssv18311853 | duplication | OSC7386 | SNP array | Probe signal intensity | 17 |
nssv18312152 | duplication | OSC7402 | SNP array | Probe signal intensity | 10 |
nssv18313090 | duplication | OSC7609 | SNP array | Probe signal intensity | 6 |
nssv18313536 | duplication | OSC7755 | SNP array | Probe signal intensity | 6 |
nssv18313789 | deletion | OSC7922 | SNP array | Probe signal intensity | 11 |
nssv18314549 | duplication | OSC7972 | SNP array | Probe signal intensity | 9 |
nssv18314573 | duplication | OSC7992 | SNP array | Probe signal intensity | 7 |
nssv18315688 | duplication | OSC8122 | SNP array | Probe signal intensity | 10 |
nssv18316330 | deletion | OSC8346 | SNP array | Probe signal intensity | 12 |
nssv18316416 | deletion | OSC8399 | SNP array | Probe signal intensity | 12 |
nssv18316558 | deletion | OSC8263 | SNP array | Probe signal intensity | 8 |
nssv18317639 | duplication | OSC8617 | SNP array | Probe signal intensity | 10 |
nssv18319374 | deletion | OSC8737 | SNP array | Probe signal intensity | 7 |
nssv18319377 | duplication | OSC8739 | SNP array | Probe signal intensity | 8 |
nssv18319569 | duplication | OSC8686 | SNP array | Probe signal intensity | nssv18319040, nssv18319568, nssv18319570 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18303464 | Remapped | Perfect | NC_000005.10:g.(?_ 777018)_(815980_?) dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 777,018 | 815,980 |
nssv18303536 | Remapped | Perfect | NC_000005.10:g.(?_ 777018)_(815980_?) dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 777,018 | 815,980 |
nssv18304454 | Remapped | Perfect | NC_000005.10:g.(?_ 777018)_(815980_?) dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 777,018 | 815,980 |
nssv18304464 | Remapped | Perfect | NC_000005.10:g.(?_ 777018)_(815980_?) dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 777,018 | 815,980 |
nssv18304505 | Remapped | Perfect | NC_000005.10:g.(?_ 777018)_(815980_?) dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 777,018 | 815,980 |
nssv18304663 | Remapped | Perfect | NC_000005.10:g.(?_ 777018)_(815980_?) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 777,018 | 815,980 |
nssv18304758 | Remapped | Perfect | NC_000005.10:g.(?_ 777018)_(815980_?) dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 777,018 | 815,980 |
nssv18305475 | Remapped | Perfect | NC_000005.10:g.(?_ 777018)_(815980_?) dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 777,018 | 815,980 |
nssv18305976 | Remapped | Perfect | NC_000005.10:g.(?_ 777018)_(815980_?) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 777,018 | 815,980 |
nssv18308397 | Remapped | Perfect | NC_000005.10:g.(?_ 777018)_(815980_?) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 777,018 | 815,980 |
nssv18308605 | Remapped | Perfect | NC_000005.10:g.(?_ 777018)_(815980_?) dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 777,018 | 815,980 |
nssv18309430 | Remapped | Perfect | NC_000005.10:g.(?_ 777018)_(815980_?) dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 777,018 | 815,980 |
nssv18309594 | Remapped | Perfect | NC_000005.10:g.(?_ 777018)_(815980_?) dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 777,018 | 815,980 |
nssv18310023 | Remapped | Perfect | NC_000005.10:g.(?_ 777018)_(815980_?) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 777,018 | 815,980 |
nssv18310362 | Remapped | Perfect | NC_000005.10:g.(?_ 777018)_(815980_?) dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 777,018 | 815,980 |
nssv18310438 | Remapped | Perfect | NC_000005.10:g.(?_ 777018)_(815980_?) dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 777,018 | 815,980 |
nssv18310575 | Remapped | Perfect | NC_000005.10:g.(?_ 777018)_(815980_?) dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 777,018 | 815,980 |
nssv18310796 | Remapped | Perfect | NC_000005.10:g.(?_ 777018)_(815980_?) dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 777,018 | 815,980 |
nssv18311732 | Remapped | Perfect | NC_000005.10:g.(?_ 777018)_(815980_?) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 777,018 | 815,980 |
nssv18311853 | Remapped | Perfect | NC_000005.10:g.(?_ 777018)_(815980_?) dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 777,018 | 815,980 |
nssv18312152 | Remapped | Perfect | NC_000005.10:g.(?_ 777018)_(815980_?) dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 777,018 | 815,980 |
nssv18313090 | Remapped | Perfect | NC_000005.10:g.(?_ 777018)_(815980_?) dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 777,018 | 815,980 |
nssv18313536 | Remapped | Perfect | NC_000005.10:g.(?_ 777018)_(815980_?) dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 777,018 | 815,980 |
nssv18313789 | Remapped | Perfect | NC_000005.10:g.(?_ 777018)_(815980_?) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 777,018 | 815,980 |
nssv18314549 | Remapped | Perfect | NC_000005.10:g.(?_ 777018)_(815980_?) dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 777,018 | 815,980 |
nssv18314573 | Remapped | Perfect | NC_000005.10:g.(?_ 777018)_(815980_?) dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 777,018 | 815,980 |
nssv18315688 | Remapped | Perfect | NC_000005.10:g.(?_ 777018)_(815980_?) dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 777,018 | 815,980 |
nssv18316330 | Remapped | Perfect | NC_000005.10:g.(?_ 777018)_(815980_?) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 777,018 | 815,980 |
nssv18316416 | Remapped | Perfect | NC_000005.10:g.(?_ 777018)_(815980_?) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 777,018 | 815,980 |
nssv18316558 | Remapped | Perfect | NC_000005.10:g.(?_ 777018)_(815980_?) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 777,018 | 815,980 |
nssv18317639 | Remapped | Perfect | NC_000005.10:g.(?_ 777018)_(815980_?) dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 777,018 | 815,980 |
nssv18319374 | Remapped | Perfect | NC_000005.10:g.(?_ 777018)_(815980_?) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 777,018 | 815,980 |
nssv18319377 | Remapped | Perfect | NC_000005.10:g.(?_ 777018)_(815980_?) dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 777,018 | 815,980 |
nssv18319569 | Remapped | Perfect | NC_000005.10:g.(?_ 777018)_(815980_?) dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 777,018 | 815,980 |
nssv18303464 | Submitted genomic | NC_000005.9:g.(?_7 77133)_(816095_?)d up | GRCh37 (hg19) | NC_000005.9 | Chr5 | 777,133 | 816,095 | ||
nssv18303536 | Submitted genomic | NC_000005.9:g.(?_7 77133)_(816095_?)d up | GRCh37 (hg19) | NC_000005.9 | Chr5 | 777,133 | 816,095 | ||
nssv18304454 | Submitted genomic | NC_000005.9:g.(?_7 77133)_(816095_?)d up | GRCh37 (hg19) | NC_000005.9 | Chr5 | 777,133 | 816,095 | ||
nssv18304464 | Submitted genomic | NC_000005.9:g.(?_7 77133)_(816095_?)d up | GRCh37 (hg19) | NC_000005.9 | Chr5 | 777,133 | 816,095 | ||
nssv18304505 | Submitted genomic | NC_000005.9:g.(?_7 77133)_(816095_?)d up | GRCh37 (hg19) | NC_000005.9 | Chr5 | 777,133 | 816,095 | ||
nssv18304663 | Submitted genomic | NC_000005.9:g.(?_7 77133)_(816095_?)d el | GRCh37 (hg19) | NC_000005.9 | Chr5 | 777,133 | 816,095 | ||
nssv18304758 | Submitted genomic | NC_000005.9:g.(?_7 77133)_(816095_?)d up | GRCh37 (hg19) | NC_000005.9 | Chr5 | 777,133 | 816,095 | ||
nssv18305475 | Submitted genomic | NC_000005.9:g.(?_7 77133)_(816095_?)d up | GRCh37 (hg19) | NC_000005.9 | Chr5 | 777,133 | 816,095 | ||
nssv18305976 | Submitted genomic | NC_000005.9:g.(?_7 77133)_(816095_?)d el | GRCh37 (hg19) | NC_000005.9 | Chr5 | 777,133 | 816,095 | ||
nssv18308397 | Submitted genomic | NC_000005.9:g.(?_7 77133)_(816095_?)d el | GRCh37 (hg19) | NC_000005.9 | Chr5 | 777,133 | 816,095 | ||
nssv18308605 | Submitted genomic | NC_000005.9:g.(?_7 77133)_(816095_?)d up | GRCh37 (hg19) | NC_000005.9 | Chr5 | 777,133 | 816,095 | ||
nssv18309430 | Submitted genomic | NC_000005.9:g.(?_7 77133)_(816095_?)d up | GRCh37 (hg19) | NC_000005.9 | Chr5 | 777,133 | 816,095 | ||
nssv18309594 | Submitted genomic | NC_000005.9:g.(?_7 77133)_(816095_?)d up | GRCh37 (hg19) | NC_000005.9 | Chr5 | 777,133 | 816,095 | ||
nssv18310023 | Submitted genomic | NC_000005.9:g.(?_7 77133)_(816095_?)d el | GRCh37 (hg19) | NC_000005.9 | Chr5 | 777,133 | 816,095 | ||
nssv18310362 | Submitted genomic | NC_000005.9:g.(?_7 77133)_(816095_?)d up | GRCh37 (hg19) | NC_000005.9 | Chr5 | 777,133 | 816,095 | ||
nssv18310438 | Submitted genomic | NC_000005.9:g.(?_7 77133)_(816095_?)d up | GRCh37 (hg19) | NC_000005.9 | Chr5 | 777,133 | 816,095 | ||
nssv18310575 | Submitted genomic | NC_000005.9:g.(?_7 77133)_(816095_?)d up | GRCh37 (hg19) | NC_000005.9 | Chr5 | 777,133 | 816,095 | ||
nssv18310796 | Submitted genomic | NC_000005.9:g.(?_7 77133)_(816095_?)d up | GRCh37 (hg19) | NC_000005.9 | Chr5 | 777,133 | 816,095 | ||
nssv18311732 | Submitted genomic | NC_000005.9:g.(?_7 77133)_(816095_?)d el | GRCh37 (hg19) | NC_000005.9 | Chr5 | 777,133 | 816,095 | ||
nssv18311853 | Submitted genomic | NC_000005.9:g.(?_7 77133)_(816095_?)d up | GRCh37 (hg19) | NC_000005.9 | Chr5 | 777,133 | 816,095 | ||
nssv18312152 | Submitted genomic | NC_000005.9:g.(?_7 77133)_(816095_?)d up | GRCh37 (hg19) | NC_000005.9 | Chr5 | 777,133 | 816,095 | ||
nssv18313090 | Submitted genomic | NC_000005.9:g.(?_7 77133)_(816095_?)d up | GRCh37 (hg19) | NC_000005.9 | Chr5 | 777,133 | 816,095 | ||
nssv18313536 | Submitted genomic | NC_000005.9:g.(?_7 77133)_(816095_?)d up | GRCh37 (hg19) | NC_000005.9 | Chr5 | 777,133 | 816,095 | ||
nssv18313789 | Submitted genomic | NC_000005.9:g.(?_7 77133)_(816095_?)d el | GRCh37 (hg19) | NC_000005.9 | Chr5 | 777,133 | 816,095 | ||
nssv18314549 | Submitted genomic | NC_000005.9:g.(?_7 77133)_(816095_?)d up | GRCh37 (hg19) | NC_000005.9 | Chr5 | 777,133 | 816,095 | ||
nssv18314573 | Submitted genomic | NC_000005.9:g.(?_7 77133)_(816095_?)d up | GRCh37 (hg19) | NC_000005.9 | Chr5 | 777,133 | 816,095 | ||
nssv18315688 | Submitted genomic | NC_000005.9:g.(?_7 77133)_(816095_?)d up | GRCh37 (hg19) | NC_000005.9 | Chr5 | 777,133 | 816,095 | ||
nssv18316330 | Submitted genomic | NC_000005.9:g.(?_7 77133)_(816095_?)d el | GRCh37 (hg19) | NC_000005.9 | Chr5 | 777,133 | 816,095 | ||
nssv18316416 | Submitted genomic | NC_000005.9:g.(?_7 77133)_(816095_?)d el | GRCh37 (hg19) | NC_000005.9 | Chr5 | 777,133 | 816,095 | ||
nssv18316558 | Submitted genomic | NC_000005.9:g.(?_7 77133)_(816095_?)d el | GRCh37 (hg19) | NC_000005.9 | Chr5 | 777,133 | 816,095 | ||
nssv18317639 | Submitted genomic | NC_000005.9:g.(?_7 77133)_(816095_?)d up | GRCh37 (hg19) | NC_000005.9 | Chr5 | 777,133 | 816,095 | ||
nssv18319374 | Submitted genomic | NC_000005.9:g.(?_7 77133)_(816095_?)d el | GRCh37 (hg19) | NC_000005.9 | Chr5 | 777,133 | 816,095 | ||
nssv18319377 | Submitted genomic | NC_000005.9:g.(?_7 77133)_(816095_?)d up | GRCh37 (hg19) | NC_000005.9 | Chr5 | 777,133 | 816,095 | ||
nssv18319569 | Submitted genomic | NC_000005.9:g.(?_7 77133)_(816095_?)d up | GRCh37 (hg19) | NC_000005.9 | Chr5 | 777,133 | 816,095 |