nsv4377611
- 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:535,294
- 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: 3016 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 3161 SVs from 102 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4377611 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 21,990,861 | 22,526,154 |
nsv4377611 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 22,459,100 | 22,995,123 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv15685644 | copy number gain | OCD169-8961251 | SNP array | Genotyping | 22 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15685644 | Remapped | Good | NC_000014.9:g.(?_2 1990861)_(22526154 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 21,990,861 | 22,526,154 |
nssv15685644 | Submitted genomic | NC_000014.8:g.(?_2 2459100)_(22995123 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 22,459,100 | 22,995,123 |