nsv6632401
- 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:986,597
- 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: 2781 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 2781 SVs from 91 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6632401 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 88,794,188 | 89,780,784 |
nsv6632401 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 88,423,502 | 89,410,098 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18287950 | duplication | OSC3218 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv18287950 | Remapped | Perfect | NC_000007.14:g.(?_ 88794188)_(8978078 4_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 88,794,188 | 89,780,784 |
nssv18287950 | Submitted genomic | NC_000007.13:g.(?_ 88423502)_(8941009 8_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 88,423,502 | 89,410,098 |