nsv4371382
- 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:43,941
- 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: 276 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 84 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 276 SVs from 44 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4371382 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 69,128,202 | 69,172,142 |
| nsv4371382 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315946.1 | Chr16|NW_0 03315946.1 | 57,690 | 89,672 |
| nsv4371382 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 69,162,105 | 69,206,045 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15630618 | copy number gain | 1-0597-003 | SNP array | Genotyping | 20 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15630618 | Remapped | Pass | NW_003315946.1:g.( ?_57690)_(89672_?) dup | GRCh38.p12 | Second Pass | NW_003315946.1 | Chr16|NW_0 03315946.1 | 57,690 | 89,672 |
| nssv15630618 | Remapped | Perfect | NC_000016.10:g.(?_ 69128202)_(6917214 2_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 69,128,202 | 69,172,142 |
| nssv15630618 | Submitted genomic | NC_000016.9:g.(?_6 9162105)_(69206045 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 69,162,105 | 69,206,045 |