nsv6631062
- 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:12,544
- 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: 264 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 264 SVs from 45 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6631062 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 44,171,210 | 44,183,753 |
nsv6631062 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 44,138,947 | 44,151,490 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18310064 | deletion | OSC7162 | SNP array | Probe signal intensity | 7 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18310064 | Remapped | Perfect | NC_000006.12:g.(?_ 44171210)_(4418375 3_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 44,171,210 | 44,183,753 |
nssv18310064 | Submitted genomic | NC_000006.11:g.(?_ 44138947)_(4415149 0_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 44,138,947 | 44,151,490 |