nsv4373116
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:16
- Validation:Not tested
- Clinical Assertions: No
- Region Size:45,124
- 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: 1258 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 1258 SVs from 86 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4373116 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 257,061 | 302,184 |
| nsv4373116 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 257,061 | 302,184 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15616521 | copy number loss | 1-0847-003 | SNP array | Genotyping | 13 |
| nssv15618439 | copy number loss | 1-0873-003 | SNP array | Genotyping | 23 |
| nssv15621744 | copy number loss | 1-1010-003 | SNP array | Genotyping | 22 |
| nssv15628070 | copy number loss | 1-0533-004 | SNP array | Genotyping | 27 |
| nssv15634418 | copy number loss | 11-0038-003 | SNP array | Genotyping | 26 |
| nssv15638391 | copy number loss | 14-0135-001 | SNP array | Genotyping | 19 |
| nssv15643711 | copy number gain | 2-0122-002 | SNP array | Genotyping | 19 |
| nssv15647036 | copy number loss | 2-1213-003 | SNP array | Genotyping | 27 |
| nssv15647927 | copy number gain | 2-1314-002 | SNP array | Genotyping | 14 |
| nssv15652073 | copy number loss | 2-1512-003 | SNP array | Genotyping | 19 |
| nssv15672700 | copy number loss | 7-0320-003 | SNP array | Genotyping | 19 |
| nssv15681935 | copy number gain | 211604 | SNP array | Genotyping | 13 |
| nssv15693753 | copy number loss | 200920 | SNP array | Genotyping | 24 |
| nssv15695833 | copy number loss | 212366 | SNP array | Genotyping | 12 |
| nssv15700479 | copy number loss | 211845 | SNP array | Genotyping | 18 |
| nssv15702485 | copy number loss | 200223-2 | SNP array | Genotyping | 21 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15616521 | Remapped | Perfect | NC_000006.12:g.(?_ 257061)_(302184_?) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,061 | 302,184 |
| nssv15618439 | Remapped | Perfect | NC_000006.12:g.(?_ 257061)_(302184_?) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,061 | 302,184 |
| nssv15621744 | Remapped | Perfect | NC_000006.12:g.(?_ 257061)_(302184_?) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,061 | 302,184 |
| nssv15628070 | Remapped | Perfect | NC_000006.12:g.(?_ 257061)_(302184_?) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,061 | 302,184 |
| nssv15634418 | Remapped | Perfect | NC_000006.12:g.(?_ 257061)_(302184_?) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,061 | 302,184 |
| nssv15638391 | Remapped | Perfect | NC_000006.12:g.(?_ 257061)_(302184_?) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,061 | 302,184 |
| nssv15643711 | Remapped | Perfect | NC_000006.12:g.(?_ 257061)_(302184_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,061 | 302,184 |
| nssv15647036 | Remapped | Perfect | NC_000006.12:g.(?_ 257061)_(302184_?) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,061 | 302,184 |
| nssv15647927 | Remapped | Perfect | NC_000006.12:g.(?_ 257061)_(302184_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,061 | 302,184 |
| nssv15652073 | Remapped | Perfect | NC_000006.12:g.(?_ 257061)_(302184_?) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,061 | 302,184 |
| nssv15672700 | Remapped | Perfect | NC_000006.12:g.(?_ 257061)_(302184_?) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,061 | 302,184 |
| nssv15681935 | Remapped | Perfect | NC_000006.12:g.(?_ 257061)_(302184_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,061 | 302,184 |
| nssv15693753 | Remapped | Perfect | NC_000006.12:g.(?_ 257061)_(302184_?) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,061 | 302,184 |
| nssv15695833 | Remapped | Perfect | NC_000006.12:g.(?_ 257061)_(302184_?) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,061 | 302,184 |
| nssv15700479 | Remapped | Perfect | NC_000006.12:g.(?_ 257061)_(302184_?) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,061 | 302,184 |
| nssv15702485 | Remapped | Perfect | NC_000006.12:g.(?_ 257061)_(302184_?) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,061 | 302,184 |
| nssv15616521 | Submitted genomic | NC_000006.11:g.(?_ 257061)_(302184_?) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,061 | 302,184 | ||
| nssv15618439 | Submitted genomic | NC_000006.11:g.(?_ 257061)_(302184_?) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,061 | 302,184 | ||
| nssv15621744 | Submitted genomic | NC_000006.11:g.(?_ 257061)_(302184_?) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,061 | 302,184 | ||
| nssv15628070 | Submitted genomic | NC_000006.11:g.(?_ 257061)_(302184_?) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,061 | 302,184 | ||
| nssv15634418 | Submitted genomic | NC_000006.11:g.(?_ 257061)_(302184_?) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,061 | 302,184 | ||
| nssv15638391 | Submitted genomic | NC_000006.11:g.(?_ 257061)_(302184_?) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,061 | 302,184 | ||
| nssv15643711 | Submitted genomic | NC_000006.11:g.(?_ 257061)_(302184_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,061 | 302,184 | ||
| nssv15647036 | Submitted genomic | NC_000006.11:g.(?_ 257061)_(302184_?) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,061 | 302,184 | ||
| nssv15647927 | Submitted genomic | NC_000006.11:g.(?_ 257061)_(302184_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,061 | 302,184 | ||
| nssv15652073 | Submitted genomic | NC_000006.11:g.(?_ 257061)_(302184_?) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,061 | 302,184 | ||
| nssv15672700 | Submitted genomic | NC_000006.11:g.(?_ 257061)_(302184_?) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,061 | 302,184 | ||
| nssv15681935 | Submitted genomic | NC_000006.11:g.(?_ 257061)_(302184_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,061 | 302,184 | ||
| nssv15693753 | Submitted genomic | NC_000006.11:g.(?_ 257061)_(302184_?) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,061 | 302,184 | ||
| nssv15695833 | Submitted genomic | NC_000006.11:g.(?_ 257061)_(302184_?) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,061 | 302,184 | ||
| nssv15700479 | Submitted genomic | NC_000006.11:g.(?_ 257061)_(302184_?) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,061 | 302,184 | ||
| nssv15702485 | Submitted genomic | NC_000006.11:g.(?_ 257061)_(302184_?) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,061 | 302,184 |