nsv4386519
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:35
- Validation:Not tested
- Clinical Assertions: No
- Region Size:142,231
- Publication(s):Zarrei et al. 2019
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: 1912 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 1912 SVs from 91 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4386519 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,531,483 |
nsv4386519 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 39,246,772 | 39,389,002 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv15615012 | copy number gain | 1-0729-003 | SNP array | Genotyping | 17 |
nssv15616018 | copy number gain | 1-0139-004 | SNP array | Genotyping | 15 |
nssv15616147 | copy number gain | 1-0784-003 | SNP array | Genotyping | 19 |
nssv15616374 | copy number gain | 1-0808-003 | SNP array | Genotyping | 25 |
nssv15617240 | copy number gain | 1-0816-003 | SNP array | Genotyping | 19 |
nssv15625178 | copy number gain | 1-0389-003 | SNP array | Genotyping | 20 |
nssv15633750 | copy number gain | 12-4310-007 | SNP array | Genotyping | 16 |
nssv15634652 | copy number gain | 12-4310-004 | SNP array | Genotyping | 14 |
nssv15635309 | copy number gain | 12-4168-001 | SNP array | Genotyping | 25 |
nssv15635951 | copy number gain | 12-4264-001 | SNP array | Genotyping | 25 |
nssv15638464 | copy number gain | 14-0135-004 | SNP array | Genotyping | 33 |
nssv15641303 | copy number gain | 14-0312-003 | SNP array | Genotyping | 24 |
nssv15641973 | copy number gain | 15-1126-004 | SNP array | Genotyping | 21 |
nssv15642131 | copy number gain | 16-1001-001 | SNP array | Genotyping | 28 |
nssv15643271 | copy number gain | 14-0362-004 | SNP array | Genotyping | 17 |
nssv15651192 | copy number loss | 2-1363-002 | SNP array | Genotyping | 25 |
nssv15654303 | copy number gain | 2-1622-003 | SNP array | Genotyping | 18 |
nssv15656286 | copy number gain | 4-0001-003 | SNP array | Genotyping | 16 |
nssv15656517 | copy number gain | 2-1753-003 | SNP array | Genotyping | 19 |
nssv15657836 | copy number gain | 4-0055-003 | SNP array | Genotyping | 21 |
nssv15658108 | copy number gain | 3-0616-000 | SNP array | Genotyping | 21 |
nssv15660057 | copy number gain | 3-0636-000 | SNP array | Genotyping | 26 |
nssv15660813 | copy number gain | 4-0034-003 | SNP array | Genotyping | 30 |
nssv15661176 | copy number gain | 5-0054-001 | SNP array | Genotyping | 20 |
nssv15667455 | copy number gain | 5-0144-001 | SNP array | Genotyping | 23 |
nssv15668511 | copy number gain | 7-0224-003 | SNP array | Genotyping | 25 |
nssv15669220 | copy number gain | 7-0140-003 | SNP array | Genotyping | 24 |
nssv15669948 | copy number gain | 7-0254-003 | SNP array | Genotyping | 14 |
nssv15686685 | copy number gain | OCD160-0625-4932-2 | SNP array | Genotyping | 23 |
nssv15690907 | copy number gain | OCD171-RS-1772 | SNP array | Genotyping | 14 |
nssv15694750 | copy number gain | 217565 | SNP array | Genotyping | 16 |
nssv15695110 | copy number gain | 187372 | SNP array | Genotyping | 20 |
nssv15700424 | copy number gain | 224726 | SNP array | Genotyping | 22 |
nssv15701607 | copy number gain | 224728 | SNP array | Genotyping | 26 |
nssv15702725 | copy number gain | 207953 | SNP array | Genotyping | 16 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15615012 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3953148 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,531,483 |
nssv15616018 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3953148 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,531,483 |
nssv15616147 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3953148 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,531,483 |
nssv15616374 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3953148 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,531,483 |
nssv15617240 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3953148 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,531,483 |
nssv15625178 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3953148 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,531,483 |
nssv15633750 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3953148 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,531,483 |
nssv15634652 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3953148 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,531,483 |
nssv15635309 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3953148 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,531,483 |
nssv15635951 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3953148 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,531,483 |
nssv15638464 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3953148 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,531,483 |
nssv15641303 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3953148 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,531,483 |
nssv15641973 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3953148 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,531,483 |
nssv15642131 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3953148 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,531,483 |
nssv15643271 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3953148 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,531,483 |
nssv15651192 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3953148 3_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,531,483 |
nssv15654303 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3953148 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,531,483 |
nssv15656286 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3953148 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,531,483 |
nssv15656517 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3953148 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,531,483 |
nssv15657836 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3953148 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,531,483 |
nssv15658108 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3953148 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,531,483 |
nssv15660057 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3953148 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,531,483 |
nssv15660813 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3953148 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,531,483 |
nssv15661176 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3953148 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,531,483 |
nssv15667455 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3953148 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,531,483 |
nssv15668511 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3953148 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,531,483 |
nssv15669220 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3953148 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,531,483 |
nssv15669948 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3953148 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,531,483 |
nssv15686685 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3953148 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,531,483 |
nssv15690907 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3953148 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,531,483 |
nssv15694750 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3953148 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,531,483 |
nssv15695110 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3953148 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,531,483 |
nssv15700424 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3953148 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,531,483 |
nssv15701607 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3953148 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,531,483 |
nssv15702725 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3953148 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,531,483 |
nssv15615012 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3938900 2_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,389,002 | ||
nssv15616018 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3938900 2_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,389,002 | ||
nssv15616147 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3938900 2_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,389,002 | ||
nssv15616374 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3938900 2_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,389,002 | ||
nssv15617240 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3938900 2_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,389,002 | ||
nssv15625178 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3938900 2_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,389,002 | ||
nssv15633750 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3938900 2_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,389,002 | ||
nssv15634652 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3938900 2_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,389,002 | ||
nssv15635309 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3938900 2_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,389,002 | ||
nssv15635951 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3938900 2_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,389,002 | ||
nssv15638464 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3938900 2_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,389,002 | ||
nssv15641303 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3938900 2_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,389,002 | ||
nssv15641973 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3938900 2_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,389,002 | ||
nssv15642131 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3938900 2_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,389,002 | ||
nssv15643271 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3938900 2_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,389,002 | ||
nssv15651192 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3938900 2_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,389,002 | ||
nssv15654303 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3938900 2_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,389,002 | ||
nssv15656286 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3938900 2_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,389,002 | ||
nssv15656517 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3938900 2_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,389,002 | ||
nssv15657836 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3938900 2_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,389,002 | ||
nssv15658108 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3938900 2_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,389,002 | ||
nssv15660057 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3938900 2_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,389,002 | ||
nssv15660813 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3938900 2_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,389,002 | ||
nssv15661176 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3938900 2_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,389,002 | ||
nssv15667455 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3938900 2_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,389,002 | ||
nssv15668511 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3938900 2_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,389,002 | ||
nssv15669220 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3938900 2_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,389,002 | ||
nssv15669948 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3938900 2_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,389,002 | ||
nssv15686685 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3938900 2_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,389,002 | ||
nssv15690907 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3938900 2_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,389,002 | ||
nssv15694750 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3938900 2_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,389,002 | ||
nssv15695110 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3938900 2_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,389,002 | ||
nssv15700424 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3938900 2_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,389,002 | ||
nssv15701607 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3938900 2_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,389,002 | ||
nssv15702725 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3938900 2_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,389,002 |