nsv6627233
- 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:520,033
- 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: 1438 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 1440 SVs from 98 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6627233 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 109,705,711 | 110,225,743 |
nsv6627233 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 110,463,288 | 110,983,320 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18284363 | deletion | OSC2662 | SNP array | Probe signal intensity | nssv18284362, nssv18284970, nssv18284971 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18284363 | Remapped | Perfect | NC_000002.12:g.(?_ 109705711)_(110225 743_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 109,705,711 | 110,225,743 |
nssv18284363 | Submitted genomic | NC_000002.11:g.(?_ 110463288)_(110983 320_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 110,463,288 | 110,983,320 |