nsv4386809
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:15
- Validation:Not tested
- Clinical Assertions: No
- Region Size:57,886
- 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: 1359 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 1359 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4386809 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 257,049 | 314,934 |
| nsv4386809 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 257,049 | 314,934 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15617712 | copy number gain | 1-0837-003 | SNP array | Genotyping | 30 |
| nssv15625276 | copy number gain | 1-0291-004 | SNP array | Genotyping | 32 |
| nssv15629438 | copy number gain | 1-0559-004 | SNP array | Genotyping | 24 |
| nssv15631871 | copy number gain | 10-1120-001 | SNP array | Genotyping | 18 |
| nssv15633774 | copy number gain | 12-4404-001 | SNP array | Genotyping | 26 |
| nssv15635870 | copy number gain | 12-4236-002 | SNP array | Genotyping | 19 |
| nssv15640391 | copy number gain | 14-0152-002 | SNP array | Genotyping | 24 |
| nssv15641257 | copy number gain | 14-0295-005 | SNP array | Genotyping | 29 |
| nssv15643910 | copy number gain | 16-1007-001 | SNP array | Genotyping | 18 |
| nssv15647440 | copy number gain | 2-0197-004 | SNP array | Genotyping | 20 |
| nssv15649749 | copy number loss | 2-1334-002 | SNP array | Genotyping | 19 |
| nssv15670563 | copy number gain | 7-0193-003 | SNP array | Genotyping | 16 |
| nssv15677497 | copy number gain | 213161 | SNP array | Genotyping | 18 |
| nssv15678767 | copy number gain | 242268S | SNP array | Genotyping | 22 |
| nssv15679540 | copy number gain | 240258S | SNP array | Genotyping | 23 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15617712 | Remapped | Perfect | NC_000006.12:g.(?_ 257049)_(314934_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,049 | 314,934 |
| nssv15625276 | Remapped | Perfect | NC_000006.12:g.(?_ 257049)_(314934_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,049 | 314,934 |
| nssv15629438 | Remapped | Perfect | NC_000006.12:g.(?_ 257049)_(314934_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,049 | 314,934 |
| nssv15631871 | Remapped | Perfect | NC_000006.12:g.(?_ 257049)_(314934_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,049 | 314,934 |
| nssv15633774 | Remapped | Perfect | NC_000006.12:g.(?_ 257049)_(314934_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,049 | 314,934 |
| nssv15635870 | Remapped | Perfect | NC_000006.12:g.(?_ 257049)_(314934_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,049 | 314,934 |
| nssv15640391 | Remapped | Perfect | NC_000006.12:g.(?_ 257049)_(314934_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,049 | 314,934 |
| nssv15641257 | Remapped | Perfect | NC_000006.12:g.(?_ 257049)_(314934_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,049 | 314,934 |
| nssv15643910 | Remapped | Perfect | NC_000006.12:g.(?_ 257049)_(314934_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,049 | 314,934 |
| nssv15647440 | Remapped | Perfect | NC_000006.12:g.(?_ 257049)_(314934_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,049 | 314,934 |
| nssv15649749 | Remapped | Perfect | NC_000006.12:g.(?_ 257049)_(314934_?) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,049 | 314,934 |
| nssv15670563 | Remapped | Perfect | NC_000006.12:g.(?_ 257049)_(314934_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,049 | 314,934 |
| nssv15677497 | Remapped | Perfect | NC_000006.12:g.(?_ 257049)_(314934_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,049 | 314,934 |
| nssv15678767 | Remapped | Perfect | NC_000006.12:g.(?_ 257049)_(314934_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,049 | 314,934 |
| nssv15679540 | Remapped | Perfect | NC_000006.12:g.(?_ 257049)_(314934_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,049 | 314,934 |
| nssv15617712 | Submitted genomic | NC_000006.11:g.(?_ 257049)_(314934_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,049 | 314,934 | ||
| nssv15625276 | Submitted genomic | NC_000006.11:g.(?_ 257049)_(314934_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,049 | 314,934 | ||
| nssv15629438 | Submitted genomic | NC_000006.11:g.(?_ 257049)_(314934_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,049 | 314,934 | ||
| nssv15631871 | Submitted genomic | NC_000006.11:g.(?_ 257049)_(314934_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,049 | 314,934 | ||
| nssv15633774 | Submitted genomic | NC_000006.11:g.(?_ 257049)_(314934_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,049 | 314,934 | ||
| nssv15635870 | Submitted genomic | NC_000006.11:g.(?_ 257049)_(314934_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,049 | 314,934 | ||
| nssv15640391 | Submitted genomic | NC_000006.11:g.(?_ 257049)_(314934_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,049 | 314,934 | ||
| nssv15641257 | Submitted genomic | NC_000006.11:g.(?_ 257049)_(314934_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,049 | 314,934 | ||
| nssv15643910 | Submitted genomic | NC_000006.11:g.(?_ 257049)_(314934_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,049 | 314,934 | ||
| nssv15647440 | Submitted genomic | NC_000006.11:g.(?_ 257049)_(314934_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,049 | 314,934 | ||
| nssv15649749 | Submitted genomic | NC_000006.11:g.(?_ 257049)_(314934_?) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,049 | 314,934 | ||
| nssv15670563 | Submitted genomic | NC_000006.11:g.(?_ 257049)_(314934_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,049 | 314,934 | ||
| nssv15677497 | Submitted genomic | NC_000006.11:g.(?_ 257049)_(314934_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,049 | 314,934 | ||
| nssv15678767 | Submitted genomic | NC_000006.11:g.(?_ 257049)_(314934_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,049 | 314,934 | ||
| nssv15679540 | Submitted genomic | NC_000006.11:g.(?_ 257049)_(314934_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,049 | 314,934 |