nsv6629971
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:29,149
- 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: 365 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 365 SVs from 67 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6629971 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 68,813,852 | 68,843,000 |
nsv6629971 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 69,679,570 | 69,708,718 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18289053 | deletion | OSC3344 | SNP array | Probe signal intensity | 5 |
nssv18290956 | deletion | OSC3635 | SNP array | Probe signal intensity | 6 |
nssv18309789 | deletion | OSC0740 | SNP array | Probe signal intensity | 8 |
nssv18322460 | deletion | OSC1464 | SNP array | Probe signal intensity | 14 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18289053 | Remapped | Perfect | NC_000004.12:g.(?_ 68813852)_(6884300 0_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,813,852 | 68,843,000 |
nssv18290956 | Remapped | Perfect | NC_000004.12:g.(?_ 68813852)_(6884300 0_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,813,852 | 68,843,000 |
nssv18309789 | Remapped | Perfect | NC_000004.12:g.(?_ 68813852)_(6884300 0_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,813,852 | 68,843,000 |
nssv18322460 | Remapped | Perfect | NC_000004.12:g.(?_ 68813852)_(6884300 0_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,813,852 | 68,843,000 |
nssv18289053 | Submitted genomic | NC_000004.11:g.(?_ 69679570)_(6970871 8_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,679,570 | 69,708,718 | ||
nssv18290956 | Submitted genomic | NC_000004.11:g.(?_ 69679570)_(6970871 8_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,679,570 | 69,708,718 | ||
nssv18309789 | Submitted genomic | NC_000004.11:g.(?_ 69679570)_(6970871 8_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,679,570 | 69,708,718 | ||
nssv18322460 | Submitted genomic | NC_000004.11:g.(?_ 69679570)_(6970871 8_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,679,570 | 69,708,718 |