nsv6630971
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:91,025
- 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: 1318 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 1318 SVs from 103 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6630971 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 31,392,478 | 31,483,502 |
nsv6630971 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 31,360,255 | 31,451,279 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18299460 | deletion | OSC5386 | SNP array | Probe signal intensity | nssv18299458, nssv18299459, nssv18300730 |
nssv18300028 | deletion | OSC5328 | SNP array | Probe signal intensity | nssv18299153 |
nssv18300729 | deletion | OSC5385 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv18299460 | Remapped | Perfect | NC_000006.12:g.(?_ 31392478)_(3148350 2_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,392,478 | 31,483,502 |
nssv18300028 | Remapped | Perfect | NC_000006.12:g.(?_ 31392478)_(3148350 2_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,392,478 | 31,483,502 |
nssv18300729 | Remapped | Perfect | NC_000006.12:g.(?_ 31392478)_(3148350 2_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,392,478 | 31,483,502 |
nssv18299460 | Submitted genomic | NC_000006.11:g.(?_ 31360255)_(3145127 9_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,360,255 | 31,451,279 | ||
nssv18300028 | Submitted genomic | NC_000006.11:g.(?_ 31360255)_(3145127 9_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,360,255 | 31,451,279 | ||
nssv18300729 | Submitted genomic | NC_000006.11:g.(?_ 31360255)_(3145127 9_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,360,255 | 31,451,279 |