nsv4373357
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:18
- Validation:Not tested
- Clinical Assertions: No
- Region Size:37,373
- 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: 1192 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 1192 SVs from 84 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4373357 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 257,340 | 294,712 |
| nsv4373357 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 257,340 | 294,712 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15621591 | copy number gain | 1-1005-004 | SNP array | Genotyping | 21 |
| nssv15631057 | copy number gain | 1-0092-001 | SNP array | Genotyping | 26 |
| nssv15633404 | copy number gain | 12-4098-002 | SNP array | Genotyping | 22 |
| nssv15638133 | copy number gain | 14-0112-001 | SNP array | Genotyping | 18 |
| nssv15638688 | copy number gain | 14-0010-002 | SNP array | Genotyping | 20 |
| nssv15642454 | copy number gain | 15-1119-003 | SNP array | Genotyping | 18 |
| nssv15642772 | copy number gain | 14-0361-001 | SNP array | Genotyping | 15 |
| nssv15644661 | copy number gain | 16-1000-002 | SNP array | Genotyping | 25 |
| nssv15645196 | copy number loss | 2-0704-003 | SNP array | Genotyping | 23 |
| nssv15653303 | copy number gain | 2-1693-003 | SNP array | Genotyping | 25 |
| nssv15658168 | copy number gain | 3-0626-000 | SNP array | Genotyping | 22 |
| nssv15658446 | copy number gain | 4-0038-002 | SNP array | Genotyping | 32 |
| nssv15668650 | copy number gain | 7-0212-003 | SNP array | Genotyping | 19 |
| nssv15669280 | copy number gain | 7-0217-003 | SNP array | Genotyping | 32 |
| nssv15679212 | copy number gain | 184228 | SNP array | Genotyping | 23 |
| nssv15683105 | copy number gain | 238145S | SNP array | Genotyping | 25 |
| nssv15683831 | copy number gain | OCD13-S_896243 | SNP array | Genotyping | 20 |
| nssv15693982 | copy number gain | 230572 | SNP array | Genotyping | 30 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15621591 | Remapped | Perfect | NC_000006.12:g.(?_ 257340)_(294712_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,340 | 294,712 |
| nssv15631057 | Remapped | Perfect | NC_000006.12:g.(?_ 257340)_(294712_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,340 | 294,712 |
| nssv15633404 | Remapped | Perfect | NC_000006.12:g.(?_ 257340)_(294712_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,340 | 294,712 |
| nssv15638133 | Remapped | Perfect | NC_000006.12:g.(?_ 257340)_(294712_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,340 | 294,712 |
| nssv15638688 | Remapped | Perfect | NC_000006.12:g.(?_ 257340)_(294712_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,340 | 294,712 |
| nssv15642454 | Remapped | Perfect | NC_000006.12:g.(?_ 257340)_(294712_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,340 | 294,712 |
| nssv15642772 | Remapped | Perfect | NC_000006.12:g.(?_ 257340)_(294712_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,340 | 294,712 |
| nssv15644661 | Remapped | Perfect | NC_000006.12:g.(?_ 257340)_(294712_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,340 | 294,712 |
| nssv15645196 | Remapped | Perfect | NC_000006.12:g.(?_ 257340)_(294712_?) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,340 | 294,712 |
| nssv15653303 | Remapped | Perfect | NC_000006.12:g.(?_ 257340)_(294712_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,340 | 294,712 |
| nssv15658168 | Remapped | Perfect | NC_000006.12:g.(?_ 257340)_(294712_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,340 | 294,712 |
| nssv15658446 | Remapped | Perfect | NC_000006.12:g.(?_ 257340)_(294712_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,340 | 294,712 |
| nssv15668650 | Remapped | Perfect | NC_000006.12:g.(?_ 257340)_(294712_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,340 | 294,712 |
| nssv15669280 | Remapped | Perfect | NC_000006.12:g.(?_ 257340)_(294712_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,340 | 294,712 |
| nssv15679212 | Remapped | Perfect | NC_000006.12:g.(?_ 257340)_(294712_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,340 | 294,712 |
| nssv15683105 | Remapped | Perfect | NC_000006.12:g.(?_ 257340)_(294712_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,340 | 294,712 |
| nssv15683831 | Remapped | Perfect | NC_000006.12:g.(?_ 257340)_(294712_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,340 | 294,712 |
| nssv15693982 | Remapped | Perfect | NC_000006.12:g.(?_ 257340)_(294712_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,340 | 294,712 |
| nssv15621591 | Submitted genomic | NC_000006.11:g.(?_ 257340)_(294712_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,340 | 294,712 | ||
| nssv15631057 | Submitted genomic | NC_000006.11:g.(?_ 257340)_(294712_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,340 | 294,712 | ||
| nssv15633404 | Submitted genomic | NC_000006.11:g.(?_ 257340)_(294712_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,340 | 294,712 | ||
| nssv15638133 | Submitted genomic | NC_000006.11:g.(?_ 257340)_(294712_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,340 | 294,712 | ||
| nssv15638688 | Submitted genomic | NC_000006.11:g.(?_ 257340)_(294712_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,340 | 294,712 | ||
| nssv15642454 | Submitted genomic | NC_000006.11:g.(?_ 257340)_(294712_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,340 | 294,712 | ||
| nssv15642772 | Submitted genomic | NC_000006.11:g.(?_ 257340)_(294712_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,340 | 294,712 | ||
| nssv15644661 | Submitted genomic | NC_000006.11:g.(?_ 257340)_(294712_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,340 | 294,712 | ||
| nssv15645196 | Submitted genomic | NC_000006.11:g.(?_ 257340)_(294712_?) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,340 | 294,712 | ||
| nssv15653303 | Submitted genomic | NC_000006.11:g.(?_ 257340)_(294712_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,340 | 294,712 | ||
| nssv15658168 | Submitted genomic | NC_000006.11:g.(?_ 257340)_(294712_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,340 | 294,712 | ||
| nssv15658446 | Submitted genomic | NC_000006.11:g.(?_ 257340)_(294712_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,340 | 294,712 | ||
| nssv15668650 | Submitted genomic | NC_000006.11:g.(?_ 257340)_(294712_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,340 | 294,712 | ||
| nssv15669280 | Submitted genomic | NC_000006.11:g.(?_ 257340)_(294712_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,340 | 294,712 | ||
| nssv15679212 | Submitted genomic | NC_000006.11:g.(?_ 257340)_(294712_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,340 | 294,712 | ||
| nssv15683105 | Submitted genomic | NC_000006.11:g.(?_ 257340)_(294712_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,340 | 294,712 | ||
| nssv15683831 | Submitted genomic | NC_000006.11:g.(?_ 257340)_(294712_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,340 | 294,712 | ||
| nssv15693982 | Submitted genomic | NC_000006.11:g.(?_ 257340)_(294712_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,340 | 294,712 |