Please click here to confirm download.
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| nstd220 | nssv17976202 | copy number loss | 1 | Sequencing | Read depth | No | GRCh37 (hg19) | NC_000022.10 | 22 | 21706150 | 24644732 | Submitted genomic | |||||||||
| nstd220 | nssv17976202 | copy number loss | 1 | Sequencing | Read depth | No | GRCh37 (hg19) | NC_000022.10 | 22 | 21706150 | 24644732 | Submitted genomic | |||||||||
| nstd220 | nssv17976202 | copy number loss | 1 | Sequencing | Read depth | No | GRCh38.p12 | NC_000022.11 | 22 | 21351861 | 24248764 | Remapped | 0.98582 | ||||||||
| nstd220 | nssv17976203 | copy number gain | 1 | Sequencing | Read depth | No | GRCh37 (hg19) | NC_000016.9 | 16 | 14889818 | 16535522 | Submitted genomic | |||||||||
| nstd220 | nssv17976203 | copy number gain | 1 | Sequencing | Read depth | No | GRCh37 (hg19) | NC_000016.9 | 16 | 14889818 | 16535522 | Submitted genomic | |||||||||
| nstd220 | nssv17976203 | copy number gain | 1 | Sequencing | Read depth | No | GRCh38.p12 | NC_000016.10 | 16 | 14795961 | 16441665 | Remapped | 1 | ||||||||
| nstd220 | nssv17976204 | copy number loss | 1 | Sequencing | Read depth | No | GRCh37 (hg19) | NC_000004.11 | 4 | 182695733 | 189079179 | Submitted genomic | |||||||||
| nstd220 | nssv17976204 | copy number loss | 1 | Sequencing | Read depth | No | GRCh37 (hg19) | NC_000004.11 | 4 | 182695733 | 189079179 | Submitted genomic | |||||||||
| nstd220 | nssv17976204 | copy number loss | 1 | Sequencing | Read depth | No | GRCh38.p12 | NC_000004.12 | 4 | 181774580 | 188158025 | Remapped | 1 | ||||||||
| nstd220 | nssv17976205 | copy number loss | 1 | Sequencing | Read depth | No | GRCh37 (hg19) | NC_000017.10 | 17 | 14161233 | 15458439 | Submitted genomic | |||||||||
| nstd220 | nssv17976205 | copy number loss | 1 | Sequencing | Read depth | No | GRCh37 (hg19) | NC_000017.10 | 17 | 14161233 | 15458439 | Submitted genomic | |||||||||
| nstd220 | nssv17976205 | copy number loss | 1 | Sequencing | Read depth | No | GRCh38.p12 | NC_000017.11 | 17 | 14257916 | 15555125 | Remapped | 1 | ||||||||
| nstd220 | nssv17976206 | copy number loss | 1 | Sequencing | Read depth | No | GRCh37 (hg19) | NC_000023.10 | X | 2795214 | 17648380 | Submitted genomic | |||||||||
| nstd220 | nssv17976206 | copy number loss | 1 | Sequencing | Read depth | No | GRCh37 (hg19) | NC_000023.10 | X | 2795214 | 17648380 | Submitted genomic | |||||||||
| nstd220 | nssv17976206 | copy number loss | 1 | Sequencing | Read depth | No | GRCh38.p12 | NC_000023.11 | X | 2877173 | 17630260 | Remapped | 0.99326 | ||||||||
| nstd220 | nssv17976207 | copy number loss | 1 | Sequencing | Read depth | No | GRCh37 (hg19) | NC_000023.10 | X | 6445119 | 8104085 | Submitted genomic | |||||||||
| nstd220 | nssv17976207 | copy number loss | 1 | Sequencing | Read depth | No | GRCh37 (hg19) | NC_000023.10 | X | 6445119 | 8104085 | Submitted genomic | |||||||||
| nstd220 | nssv17976207 | copy number loss | 1 | Sequencing | Read depth | No | GRCh38.p12 | NC_000023.11 | X | 6527078 | 8136044 | Remapped | 0.96986 | ||||||||
| nstd220 | nssv17976208 | copy number gain | 1 | Sequencing | Read depth | No | GRCh37 (hg19) | NC_000002.11 | 2 | 111195659 | 113121587 | Submitted genomic | |||||||||
| nstd220 | nssv17976208 | copy number gain | 1 | Sequencing | Read depth | No | GRCh37 (hg19) | NC_000002.11 | 2 | 111195659 | 113121587 | Submitted genomic | |||||||||
| nstd220 | nssv17976208 | copy number gain | 1 | Sequencing | Read depth | No | GRCh38.p12 | NC_000002.12 | 2 | 110438082 | 112364010 | Remapped | 1 | ||||||||
| nstd220 | nssv17976209 | copy number gain | 1 | Sequencing | Read depth | No | GRCh37 (hg19) | NC_000016.9 | 16 | 29410978 | 30305956 | Submitted genomic | |||||||||
| nstd220 | nssv17976209 | copy number gain | 1 | Sequencing | Read depth | No | GRCh37 (hg19) | NC_000016.9 | 16 | 29410978 | 30305956 | Submitted genomic | |||||||||
| nstd220 | nssv17976209 | copy number gain | 1 | Sequencing | Read depth | No | GRCh38.p12 | NC_000016.10 | 16 | 29399657 | 30294635 | Remapped | 1 | ||||||||
| nstd220 | nssv17976210 | copy number loss | 1 | Sequencing | Read depth | No | GRCh37 (hg19) | NC_000023.10 | X | 6472218 | 8150233 | Submitted genomic | |||||||||
| nstd220 | nssv17976210 | copy number loss | 1 | Sequencing | Read depth | No | GRCh37 (hg19) | NC_000023.10 | X | 6472218 | 8150233 | Submitted genomic | |||||||||
| nstd220 | nssv17976210 | copy number loss | 1 | Sequencing | Read depth | No | GRCh38.p12 | NC_000023.11 | X | 6554177 | 8182192 | Remapped | 0.9702 | ||||||||
| nstd220 | nssv17976211 | copy number loss | 1 | Sequencing | Read depth | No | GRCh37 (hg19) | NC_000017.10 | 17 | 34710859 | 36306985 | Submitted genomic | |||||||||
| nstd220 | nssv17976211 | copy number loss | 1 | Sequencing | Read depth | No | GRCh37 (hg19) | NC_000017.10 | 17 | 34710859 | 36306985 | Submitted genomic | |||||||||
| nstd220 | nssv17976211 | copy number loss | 1 | Sequencing | Read depth | No | GRCh38.p12 | NC_000017.11 | 17 | 36446545 | 38150935 | Remapped | 1.06783 | ||||||||
| nstd220 | nssv17976211 | copy number loss | 1 | Sequencing | Read depth | No | GRCh38.p12 | NT_187614.1 | 17|NT_187614.1 | 694163 | 2186050 | Remapped | 0.93469 | ||||||||
| nstd220 | nssv17976212 | copy number gain | 1 | Sequencing | Read depth | No | GRCh37 (hg19) | NC_000015.9 | 15 | 23990956 | 28419527 | Submitted genomic | |||||||||
| nstd220 | nssv17976212 | copy number gain | 1 | Sequencing | Read depth | No | GRCh37 (hg19) | NC_000015.9 | 15 | 23990956 | 28419527 | Submitted genomic | |||||||||
| nstd220 | nssv17976212 | copy number gain | 1 | Sequencing | Read depth | No | GRCh38.p12 | NC_000015.10 | 15 | 23745809 | 28174381 | Remapped | 1 | ||||||||
| nstd220 | nssv17976213 | copy number loss | 1 | Sequencing | Read depth | No | GRCh37 (hg19) | NC_000023.10 | X | 2795214 | 16240667 | Submitted genomic | |||||||||
| nstd220 | nssv17976213 | copy number loss | 1 | Sequencing | Read depth | No | GRCh37 (hg19) | NC_000023.10 | X | 2795214 | 16240667 | Submitted genomic | |||||||||
| nstd220 | nssv17976213 | copy number loss | 1 | Sequencing | Read depth | No | GRCh38.p12 | NC_000023.11 | X | 2877173 | 16222544 | Remapped | 0.99256 | ||||||||
| nstd220 | nssv17976214 | copy number loss | 1 | Sequencing | Read depth | No | GRCh37 (hg19) | NC_000016.9 | 16 | 15112139 | 16561127 | Submitted genomic | |||||||||
| nstd220 | nssv17976214 | copy number loss | 1 | Sequencing | Read depth | No | GRCh37 (hg19) | NC_000016.9 | 16 | 15112139 | 16561127 | Submitted genomic | |||||||||
| nstd220 | nssv17976214 | copy number loss | 1 | Sequencing | Read depth | No | GRCh38.p12 | NC_000016.10 | 16 | 15018282 | 16467270 | Remapped | 1 | ||||||||
| nstd220 | nssv17976214 | copy number loss | 1 | Sequencing | Read depth | No | GRCh38.p12 | NT_187607.1 | 16|NT_187607.1 | 857626 | 2128327 | Remapped | 0.87696 | ||||||||
| nstd220 | nssv17976215 | copy number loss | 1 | Sequencing | Read depth | No | GRCh37 (hg19) | NC_000016.9 | 16 | 15142813 | 16428637 | Submitted genomic | |||||||||
| nstd220 | nssv17976215 | copy number loss | 1 | Sequencing | Read depth | No | GRCh37 (hg19) | NC_000016.9 | 16 | 15142813 | 16428637 | Submitted genomic | |||||||||
| nstd220 | nssv17976215 | copy number loss | 1 | Sequencing | Read depth | No | GRCh38.p12 | NC_000016.10 | 16 | 15048956 | 16334780 | Remapped | 1 | ||||||||
| nstd220 | nssv17976215 | copy number loss | 1 | Sequencing | Read depth | No | GRCh38.p12 | NT_187607.1 | 16|NT_187607.1 | 1015619 | 1993961 | Remapped | 0.76087 | ||||||||
| nstd220 | nssv17976216 | copy number gain | 1 | Sequencing | Read depth | No | GRCh37 (hg19) | NC_000017.10 | 17 | 14126371 | 15556920 | Submitted genomic | |||||||||
| nstd220 | nssv17976216 | copy number gain | 1 | Sequencing | Read depth | No | GRCh37 (hg19) | NC_000017.10 | 17 | 14126371 | 15556920 | Submitted genomic | |||||||||
| nstd220 | nssv17976216 | copy number gain | 1 | Sequencing | Read depth | No | GRCh38.p12 | NC_000017.11 | 17 | 14223054 | 15653606 | Remapped | 1 | ||||||||
| nstd220 | nssv17976217 | copy number loss | 1 | Sequencing | Read depth | No | GRCh37 (hg19) | NC_000002.11 | 2 | 111476219 | 113095275 | Submitted genomic | |||||||||
| nstd220 | nssv17976217 | copy number loss | 1 | Sequencing | Read depth | No | GRCh37 (hg19) | NC_000002.11 | 2 | 111476219 | 113095275 | Submitted genomic | |||||||||
| nstd220 | nssv17976217 | copy number loss | 1 | Sequencing | Read depth | No | GRCh38.p12 | NC_000002.12 | 2 | 110718642 | 112337698 | Remapped | 1 | ||||||||
| nstd220 | nssv17976218 | copy number loss | 1 | Sequencing | Read depth | No | GRCh37 (hg19) | NC_000016.9 | 16 | 15395056 | 18200933 | Submitted genomic | |||||||||
| nstd220 | nssv17976218 | copy number loss | 1 | Sequencing | Read depth | No | GRCh37 (hg19) | NC_000016.9 | 16 | 15395056 | 18200933 | Submitted genomic | |||||||||
| nstd220 | nssv17976218 | copy number loss | 1 | Sequencing | Read depth | No | GRCh38.p12 | NC_000016.10 | 16 | 15301199 | 18107076 | Remapped | 1 | ||||||||
| nstd220 | nssv17976218 | copy number loss | 1 | Sequencing | Read depth | No | GRCh38.p12 | NT_187607.1 | 16|NT_187607.1 | 1015619 | 2659700 | Remapped | 0.58594 |