nsv6625814
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:13,430
- Publication(s):Zarrei et al. 2023
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: 1121 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 482 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 1119 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6625814 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 12,847,848 | 12,861,277 |
| nsv6625814 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_012132914.1 | Chr1|NW_01 2132914.1 | 29,361 | 42,790 |
| nsv6625814 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 12,907,701 | 12,921,132 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18295439 | duplication | OSC0474 | SNP array | Probe signal intensity | nssv18295976, nssv18295653, nssv18295434 |
| nssv18312082 | duplication | OSC0079 | SNP array | Probe signal intensity | 5 |
| nssv18321512 | deletion | OSC1188 | SNP array | Probe signal intensity | 8 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18295439 | Remapped | Good | NW_012132914.1:g.( ?_29361)_(42790_?) dup | GRCh38.p12 | Second Pass | NW_012132914.1 | Chr1|NW_01 2132914.1 | 29,361 | 42,790 |
| nssv18312082 | Remapped | Good | NW_012132914.1:g.( ?_29361)_(42790_?) dup | GRCh38.p12 | Second Pass | NW_012132914.1 | Chr1|NW_01 2132914.1 | 29,361 | 42,790 |
| nssv18321512 | Remapped | Good | NW_012132914.1:g.( ?_29361)_(42790_?) del | GRCh38.p12 | Second Pass | NW_012132914.1 | Chr1|NW_01 2132914.1 | 29,361 | 42,790 |
| nssv18295439 | Remapped | Good | NC_000001.11:g.(?_ 12847848)_(1286127 7_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,847,848 | 12,861,277 |
| nssv18312082 | Remapped | Good | NC_000001.11:g.(?_ 12847848)_(1286127 7_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,847,848 | 12,861,277 |
| nssv18321512 | Remapped | Good | NC_000001.11:g.(?_ 12847848)_(1286127 7_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,847,848 | 12,861,277 |
| nssv18295439 | Submitted genomic | NC_000001.10:g.(?_ 12907701)_(1292113 2_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,907,701 | 12,921,132 | ||
| nssv18312082 | Submitted genomic | NC_000001.10:g.(?_ 12907701)_(1292113 2_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,907,701 | 12,921,132 | ||
| nssv18321512 | Submitted genomic | NC_000001.10:g.(?_ 12907701)_(1292113 2_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,907,701 | 12,921,132 |