nsv4368002
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:5,351,005
- 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: 19189 SVs from 139 studies. See in: genome view
Overlapping variant regions from other studies: 7348 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 22946 SVs from 142 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4368002 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 23,319,714 | 28,670,718 |
| nsv4368002 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 1 | 4,542,614 |
| nsv4368002 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 22,770,422 | 28,915,864 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15630414 | copy number gain | 1-0611-003 | SNP array | Genotyping | 18 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15630414 | Remapped | Pass | NW_011332701.1:g.( ?_1)_(4542614_?)du p | GRCh38.p12 | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 1 | 4,542,614 |
| nssv15630414 | Remapped | Pass | NC_000015.10:g.(?_ 23319714)_(2867071 8_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 23,319,714 | 28,670,718 |
| nssv15630414 | Submitted genomic | NC_000015.9:g.(?_2 2770422)_(28915864 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,770,422 | 28,915,864 |