nsv6625614
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:41,166
- 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: 1383 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 545 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 1382 SVs from 93 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6625614 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 12,820,291 | 12,861,456 |
| nsv6625614 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_012132914.1 | Chr1|NW_01 2132914.1 | 1,804 | 42,969 |
| nsv6625614 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 12,880,153 | 12,921,311 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18287406 | duplication | OSC3097 | SNP array | Probe signal intensity | 11 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18287406 | Remapped | Good | NW_012132914.1:g.( ?_1804)_(42969_?)d up | GRCh38.p12 | Second Pass | NW_012132914.1 | Chr1|NW_01 2132914.1 | 1,804 | 42,969 |
| nssv18287406 | Remapped | Good | NC_000001.11:g.(?_ 12820291)_(1286145 6_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,820,291 | 12,861,456 |
| nssv18287406 | Submitted genomic | NC_000001.10:g.(?_ 12880153)_(1292131 1_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,880,153 | 12,921,311 |