nsv821645
- Organism: Homo sapiens
- Study:nstd66 (Sebat et al. 2004)
- Variant Type:copy number variation
- Method Type:ROMA
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:34,940
- Publication(s):Sebat et al. 2004
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: 208 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 208 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 8 SVs from 4 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 |
---|---|---|---|---|---|---|---|---|---|
nsv821645 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 18,983,727 | 19,018,666 |
nsv821645 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 18,983,958 | 19,018,897 |
nsv821645 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000006.9 | Chr6 | 19,091,937 | 19,126,876 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv1421413 | copy number loss | ROMA | Probe signal intensity |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv1421413 | Remapped | Perfect | NC_000006.12:g.(?_ 18983727)_(1901866 6_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 18,983,727 | 19,018,666 |
nssv1421413 | Remapped | Perfect | NC_000006.11:g.(?_ 18983958)_(1901889 7_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 18,983,958 | 19,018,897 |
nssv1421413 | Submitted genomic | NC_000006.9:g.(?_1 9091937)_(19126876 _?)del | NCBI35 (hg17) | NC_000006.9 | Chr6 | 19,091,937 | 19,126,876 |