nsv438014
- Organism: Homo sapiens
- Study:nstd20 (McCarroll et al. 2006)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI34 (hg16)
- Variant Calls:27
- Validation:Not tested
- Clinical Assertions: No
- Region Size:53,637
- Publication(s):McCarroll et al. 2006
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: 967 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 967 SVs from 93 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 |
---|---|---|---|---|---|---|---|---|---|
nsv438014 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 594,755 | 648,391 |
nsv438014 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 544,755 | 598,391 |
nsv438014 | Submitted genomic | NCBI34 (hg16) | Primary Assembly | NC_000008.8 | Chr8 | 534,755 | 588,391 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv469612 | copy number loss | SNP array | SNP genotyping analysis | ||
nssv469583 | copy number loss | NA18547 | SNP array | SNP genotyping analysis | 14 |
nssv469584 | copy number loss | NA18609 | SNP array | SNP genotyping analysis | 14 |
nssv469586 | copy number loss | NA18550 | SNP array | SNP genotyping analysis | 12 |
nssv469587 | copy number loss | NA18608 | SNP array | SNP genotyping analysis | 13 |
nssv469588 | copy number loss | NA18611 | SNP array | SNP genotyping analysis | 9 |
nssv469589 | copy number loss | NA18632 | SNP array | SNP genotyping analysis | 10 |
nssv469590 | copy number loss | NA18635 | SNP array | SNP genotyping analysis | 16 |
nssv469591 | copy number loss | NA18593 | SNP array | SNP genotyping analysis | 13 |
nssv469592 | copy number loss | NA18576 | SNP array | SNP genotyping analysis | 8 |
nssv469593 | copy number loss | NA18612 | SNP array | SNP genotyping analysis | 10 |
nssv469594 | copy number loss | NA18594 | SNP array | SNP genotyping analysis | 15 |
nssv469595 | copy number loss | NA18622 | SNP array | SNP genotyping analysis | 13 |
nssv469597 | copy number loss | NA18953 | SNP array | SNP genotyping analysis | 12 |
nssv469598 | copy number loss | NA18960 | SNP array | SNP genotyping analysis | 11 |
nssv469599 | copy number loss | NA18961 | SNP array | SNP genotyping analysis | 13 |
nssv469600 | copy number loss | NA18972 | SNP array | SNP genotyping analysis | 22 |
nssv469601 | copy number loss | NA18956 | SNP array | SNP genotyping analysis | 11 |
nssv469602 | copy number loss | NA18949 | SNP array | SNP genotyping analysis | 12 |
nssv469603 | copy number loss | NA18966 | SNP array | SNP genotyping analysis | 19 |
nssv469604 | copy number loss | NA18975 | SNP array | SNP genotyping analysis | 14 |
nssv469605 | copy number loss | NA18998 | SNP array | SNP genotyping analysis | 14 |
nssv469606 | copy number loss | NA19000 | SNP array | SNP genotyping analysis | 10 |
nssv469608 | copy number loss | NA18987 | SNP array | SNP genotyping analysis | 14 |
nssv469609 | copy number loss | NA18976 | SNP array | SNP genotyping analysis | 16 |
nssv469610 | copy number loss | NA18995 | SNP array | SNP genotyping analysis | 14 |
nssv469611 | copy number loss | NA18974 | SNP array | SNP genotyping analysis | 7 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv469612 | Remapped | Perfect | NC_000008.11:g.(?_ 594755)_(648391_?) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 594,755 | 648,391 |
nssv469583 | Remapped | Perfect | NC_000008.11:g.(?_ 647487)_(648391_?) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 647,487 | 648,391 |
nssv469584 | Remapped | Perfect | NC_000008.11:g.(?_ 647487)_(648391_?) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 647,487 | 648,391 |
nssv469586 | Remapped | Perfect | NC_000008.11:g.(?_ 647487)_(648391_?) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 647,487 | 648,391 |
nssv469587 | Remapped | Perfect | NC_000008.11:g.(?_ 647487)_(648391_?) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 647,487 | 648,391 |
nssv469588 | Remapped | Perfect | NC_000008.11:g.(?_ 647487)_(648391_?) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 647,487 | 648,391 |
nssv469589 | Remapped | Perfect | NC_000008.11:g.(?_ 647487)_(648391_?) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 647,487 | 648,391 |
nssv469590 | Remapped | Perfect | NC_000008.11:g.(?_ 647487)_(648391_?) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 647,487 | 648,391 |
nssv469591 | Remapped | Perfect | NC_000008.11:g.(?_ 647487)_(648391_?) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 647,487 | 648,391 |
nssv469592 | Remapped | Perfect | NC_000008.11:g.(?_ 647487)_(648391_?) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 647,487 | 648,391 |
nssv469593 | Remapped | Perfect | NC_000008.11:g.(?_ 647487)_(648391_?) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 647,487 | 648,391 |
nssv469594 | Remapped | Perfect | NC_000008.11:g.(?_ 647487)_(648391_?) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 647,487 | 648,391 |
nssv469595 | Remapped | Perfect | NC_000008.11:g.(?_ 647487)_(648391_?) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 647,487 | 648,391 |
nssv469597 | Remapped | Perfect | NC_000008.11:g.(?_ 647487)_(648391_?) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 647,487 | 648,391 |
nssv469598 | Remapped | Perfect | NC_000008.11:g.(?_ 647487)_(648391_?) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 647,487 | 648,391 |
nssv469599 | Remapped | Perfect | NC_000008.11:g.(?_ 647487)_(648391_?) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 647,487 | 648,391 |
nssv469600 | Remapped | Perfect | NC_000008.11:g.(?_ 647487)_(648391_?) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 647,487 | 648,391 |
nssv469601 | Remapped | Perfect | NC_000008.11:g.(?_ 647487)_(648391_?) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 647,487 | 648,391 |
nssv469602 | Remapped | Perfect | NC_000008.11:g.(?_ 647487)_(648391_?) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 647,487 | 648,391 |
nssv469603 | Remapped | Perfect | NC_000008.11:g.(?_ 647487)_(648391_?) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 647,487 | 648,391 |
nssv469604 | Remapped | Perfect | NC_000008.11:g.(?_ 647487)_(648391_?) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 647,487 | 648,391 |
nssv469605 | Remapped | Perfect | NC_000008.11:g.(?_ 647487)_(648391_?) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 647,487 | 648,391 |
nssv469606 | Remapped | Perfect | NC_000008.11:g.(?_ 647487)_(648391_?) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 647,487 | 648,391 |
nssv469608 | Remapped | Perfect | NC_000008.11:g.(?_ 647487)_(648391_?) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 647,487 | 648,391 |
nssv469609 | Remapped | Perfect | NC_000008.11:g.(?_ 647487)_(648391_?) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 647,487 | 648,391 |
nssv469610 | Remapped | Perfect | NC_000008.11:g.(?_ 647487)_(648391_?) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 647,487 | 648,391 |
nssv469611 | Remapped | Perfect | NC_000008.11:g.(?_ 647487)_(648391_?) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 647,487 | 648,391 |
nssv469612 | Remapped | Perfect | NC_000008.10:g.(?_ 544755)_(598391_?) del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 544,755 | 598,391 |
nssv469583 | Remapped | Perfect | NC_000008.10:g.(?_ 597487)_(598391_?) del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 597,487 | 598,391 |
nssv469584 | Remapped | Perfect | NC_000008.10:g.(?_ 597487)_(598391_?) del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 597,487 | 598,391 |
nssv469586 | Remapped | Perfect | NC_000008.10:g.(?_ 597487)_(598391_?) del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 597,487 | 598,391 |
nssv469587 | Remapped | Perfect | NC_000008.10:g.(?_ 597487)_(598391_?) del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 597,487 | 598,391 |
nssv469588 | Remapped | Perfect | NC_000008.10:g.(?_ 597487)_(598391_?) del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 597,487 | 598,391 |
nssv469589 | Remapped | Perfect | NC_000008.10:g.(?_ 597487)_(598391_?) del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 597,487 | 598,391 |
nssv469590 | Remapped | Perfect | NC_000008.10:g.(?_ 597487)_(598391_?) del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 597,487 | 598,391 |
nssv469591 | Remapped | Perfect | NC_000008.10:g.(?_ 597487)_(598391_?) del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 597,487 | 598,391 |
nssv469592 | Remapped | Perfect | NC_000008.10:g.(?_ 597487)_(598391_?) del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 597,487 | 598,391 |
nssv469593 | Remapped | Perfect | NC_000008.10:g.(?_ 597487)_(598391_?) del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 597,487 | 598,391 |
nssv469594 | Remapped | Perfect | NC_000008.10:g.(?_ 597487)_(598391_?) del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 597,487 | 598,391 |
nssv469595 | Remapped | Perfect | NC_000008.10:g.(?_ 597487)_(598391_?) del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 597,487 | 598,391 |
nssv469597 | Remapped | Perfect | NC_000008.10:g.(?_ 597487)_(598391_?) del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 597,487 | 598,391 |
nssv469598 | Remapped | Perfect | NC_000008.10:g.(?_ 597487)_(598391_?) del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 597,487 | 598,391 |
nssv469599 | Remapped | Perfect | NC_000008.10:g.(?_ 597487)_(598391_?) del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 597,487 | 598,391 |
nssv469600 | Remapped | Perfect | NC_000008.10:g.(?_ 597487)_(598391_?) del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 597,487 | 598,391 |
nssv469601 | Remapped | Perfect | NC_000008.10:g.(?_ 597487)_(598391_?) del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 597,487 | 598,391 |
nssv469602 | Remapped | Perfect | NC_000008.10:g.(?_ 597487)_(598391_?) del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 597,487 | 598,391 |
nssv469603 | Remapped | Perfect | NC_000008.10:g.(?_ 597487)_(598391_?) del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 597,487 | 598,391 |
nssv469604 | Remapped | Perfect | NC_000008.10:g.(?_ 597487)_(598391_?) del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 597,487 | 598,391 |
nssv469605 | Remapped | Perfect | NC_000008.10:g.(?_ 597487)_(598391_?) del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 597,487 | 598,391 |
nssv469606 | Remapped | Perfect | NC_000008.10:g.(?_ 597487)_(598391_?) del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 597,487 | 598,391 |
nssv469608 | Remapped | Perfect | NC_000008.10:g.(?_ 597487)_(598391_?) del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 597,487 | 598,391 |
nssv469609 | Remapped | Perfect | NC_000008.10:g.(?_ 597487)_(598391_?) del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 597,487 | 598,391 |
nssv469610 | Remapped | Perfect | NC_000008.10:g.(?_ 597487)_(598391_?) del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 597,487 | 598,391 |
nssv469611 | Remapped | Perfect | NC_000008.10:g.(?_ 597487)_(598391_?) del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 597,487 | 598,391 |
nssv469612 | Submitted genomic | NC_000008.8:g.(?_5 34755)_(588391_?)d el | NCBI34 (hg16) | NC_000008.8 | Chr8 | 534,755 | 588,391 | ||
nssv469583 | Submitted genomic | NC_000008.8:g.(?_5 87487)_(588391_?)d el | NCBI34 (hg16) | NC_000008.8 | Chr8 | 587,487 | 588,391 | ||
nssv469584 | Submitted genomic | NC_000008.8:g.(?_5 87487)_(588391_?)d el | NCBI34 (hg16) | NC_000008.8 | Chr8 | 587,487 | 588,391 | ||
nssv469586 | Submitted genomic | NC_000008.8:g.(?_5 87487)_(588391_?)d el | NCBI34 (hg16) | NC_000008.8 | Chr8 | 587,487 | 588,391 | ||
nssv469587 | Submitted genomic | NC_000008.8:g.(?_5 87487)_(588391_?)d el | NCBI34 (hg16) | NC_000008.8 | Chr8 | 587,487 | 588,391 | ||
nssv469588 | Submitted genomic | NC_000008.8:g.(?_5 87487)_(588391_?)d el | NCBI34 (hg16) | NC_000008.8 | Chr8 | 587,487 | 588,391 | ||
nssv469589 | Submitted genomic | NC_000008.8:g.(?_5 87487)_(588391_?)d el | NCBI34 (hg16) | NC_000008.8 | Chr8 | 587,487 | 588,391 | ||
nssv469590 | Submitted genomic | NC_000008.8:g.(?_5 87487)_(588391_?)d el | NCBI34 (hg16) | NC_000008.8 | Chr8 | 587,487 | 588,391 | ||
nssv469591 | Submitted genomic | NC_000008.8:g.(?_5 87487)_(588391_?)d el | NCBI34 (hg16) | NC_000008.8 | Chr8 | 587,487 | 588,391 | ||
nssv469592 | Submitted genomic | NC_000008.8:g.(?_5 87487)_(588391_?)d el | NCBI34 (hg16) | NC_000008.8 | Chr8 | 587,487 | 588,391 | ||
nssv469593 | Submitted genomic | NC_000008.8:g.(?_5 87487)_(588391_?)d el | NCBI34 (hg16) | NC_000008.8 | Chr8 | 587,487 | 588,391 | ||
nssv469594 | Submitted genomic | NC_000008.8:g.(?_5 87487)_(588391_?)d el | NCBI34 (hg16) | NC_000008.8 | Chr8 | 587,487 | 588,391 | ||
nssv469595 | Submitted genomic | NC_000008.8:g.(?_5 87487)_(588391_?)d el | NCBI34 (hg16) | NC_000008.8 | Chr8 | 587,487 | 588,391 | ||
nssv469597 | Submitted genomic | NC_000008.8:g.(?_5 87487)_(588391_?)d el | NCBI34 (hg16) | NC_000008.8 | Chr8 | 587,487 | 588,391 | ||
nssv469598 | Submitted genomic | NC_000008.8:g.(?_5 87487)_(588391_?)d el | NCBI34 (hg16) | NC_000008.8 | Chr8 | 587,487 | 588,391 | ||
nssv469599 | Submitted genomic | NC_000008.8:g.(?_5 87487)_(588391_?)d el | NCBI34 (hg16) | NC_000008.8 | Chr8 | 587,487 | 588,391 | ||
nssv469600 | Submitted genomic | NC_000008.8:g.(?_5 87487)_(588391_?)d el | NCBI34 (hg16) | NC_000008.8 | Chr8 | 587,487 | 588,391 | ||
nssv469601 | Submitted genomic | NC_000008.8:g.(?_5 87487)_(588391_?)d el | NCBI34 (hg16) | NC_000008.8 | Chr8 | 587,487 | 588,391 | ||
nssv469602 | Submitted genomic | NC_000008.8:g.(?_5 87487)_(588391_?)d el | NCBI34 (hg16) | NC_000008.8 | Chr8 | 587,487 | 588,391 | ||
nssv469603 | Submitted genomic | NC_000008.8:g.(?_5 87487)_(588391_?)d el | NCBI34 (hg16) | NC_000008.8 | Chr8 | 587,487 | 588,391 | ||
nssv469604 | Submitted genomic | NC_000008.8:g.(?_5 87487)_(588391_?)d el | NCBI34 (hg16) | NC_000008.8 | Chr8 | 587,487 | 588,391 | ||
nssv469605 | Submitted genomic | NC_000008.8:g.(?_5 87487)_(588391_?)d el | NCBI34 (hg16) | NC_000008.8 | Chr8 | 587,487 | 588,391 | ||
nssv469606 | Submitted genomic | NC_000008.8:g.(?_5 87487)_(588391_?)d el | NCBI34 (hg16) | NC_000008.8 | Chr8 | 587,487 | 588,391 | ||
nssv469608 | Submitted genomic | NC_000008.8:g.(?_5 87487)_(588391_?)d el | NCBI34 (hg16) | NC_000008.8 | Chr8 | 587,487 | 588,391 | ||
nssv469609 | Submitted genomic | NC_000008.8:g.(?_5 87487)_(588391_?)d el | NCBI34 (hg16) | NC_000008.8 | Chr8 | 587,487 | 588,391 | ||
nssv469610 | Submitted genomic | NC_000008.8:g.(?_5 87487)_(588391_?)d el | NCBI34 (hg16) | NC_000008.8 | Chr8 | 587,487 | 588,391 | ||
nssv469611 | Submitted genomic | NC_000008.8:g.(?_5 87487)_(588391_?)d el | NCBI34 (hg16) | NC_000008.8 | Chr8 | 587,487 | 588,391 |