nsv4385665
- 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:42,255
- 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: 268 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 268 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4385665 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 40,685,484 | 40,727,738 |
nsv4385665 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 41,191,389 | 41,233,643 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv15671761 | copy number gain | 9-0015-003 | SNP array | Genotyping | 23 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15671761 | Remapped | Perfect | NC_000019.10:g.(?_ 40685484)_(4072773 8_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 40,685,484 | 40,727,738 |
nssv15671761 | Submitted genomic | NC_000019.9:g.(?_4 1191389)_(41233643 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 41,191,389 | 41,233,643 |