nsv4386993
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:6
- Validation:Not tested
- Clinical Assertions: No
- Region Size:60,652
- 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: 1374 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 1374 SVs from 87 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4386993 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 254,283 | 314,934 |
| nsv4386993 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 254,283 | 314,934 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15614476 | copy number gain | 1-0762-003 | SNP array | Genotyping | 19 |
| nssv15630303 | copy number gain | 1-0608-003 | SNP array | Genotyping | 17 |
| nssv15639364 | copy number gain | 14-0179-004 | SNP array | Genotyping | 23 |
| nssv15648549 | copy number gain | 2-1244-003 | SNP array | Genotyping | 19 |
| nssv15653215 | copy number gain | 2-1637-003 | SNP array | Genotyping | 24 |
| nssv15669151 | copy number gain | 7-0135-003 | SNP array | Genotyping | 25 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15614476 | Remapped | Perfect | NC_000006.12:g.(?_ 254283)_(314934_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 254,283 | 314,934 |
| nssv15630303 | Remapped | Perfect | NC_000006.12:g.(?_ 254283)_(314934_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 254,283 | 314,934 |
| nssv15639364 | Remapped | Perfect | NC_000006.12:g.(?_ 254283)_(314934_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 254,283 | 314,934 |
| nssv15648549 | Remapped | Perfect | NC_000006.12:g.(?_ 254283)_(314934_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 254,283 | 314,934 |
| nssv15653215 | Remapped | Perfect | NC_000006.12:g.(?_ 254283)_(314934_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 254,283 | 314,934 |
| nssv15669151 | Remapped | Perfect | NC_000006.12:g.(?_ 254283)_(314934_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 254,283 | 314,934 |
| nssv15614476 | Submitted genomic | NC_000006.11:g.(?_ 254283)_(314934_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 254,283 | 314,934 | ||
| nssv15630303 | Submitted genomic | NC_000006.11:g.(?_ 254283)_(314934_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 254,283 | 314,934 | ||
| nssv15639364 | Submitted genomic | NC_000006.11:g.(?_ 254283)_(314934_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 254,283 | 314,934 | ||
| nssv15648549 | Submitted genomic | NC_000006.11:g.(?_ 254283)_(314934_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 254,283 | 314,934 | ||
| nssv15653215 | Submitted genomic | NC_000006.11:g.(?_ 254283)_(314934_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 254,283 | 314,934 | ||
| nssv15669151 | Submitted genomic | NC_000006.11:g.(?_ 254283)_(314934_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 254,283 | 314,934 |