nsv6621018
- 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:205,678
- 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: 783 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 783 SVs from 89 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6621018 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 67,758,808 | 67,964,485 |
nsv6621018 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 67,526,279 | 67,731,956 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18282766 | duplication | OSC2189 | SNP array | Probe signal intensity | 6 |
nssv18284446 | duplication | OSC2556 | SNP array | Probe signal intensity | nssv18284447, nssv18284815, nssv18284448 |
nssv18291258 | duplication | OSC3639 | SNP array | Probe signal intensity | nssv18291257, nssv18291256, nssv18291255 |
nssv18324241 | duplication | OSC1615 | SNP array | Probe signal intensity | nssv18324522, nssv18324521, nssv18324242 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18282766 | Remapped | Perfect | NC_000011.10:g.(?_ 67758808)_(6796448 5_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 67,758,808 | 67,964,485 |
nssv18284446 | Remapped | Perfect | NC_000011.10:g.(?_ 67758808)_(6796448 5_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 67,758,808 | 67,964,485 |
nssv18291258 | Remapped | Perfect | NC_000011.10:g.(?_ 67758808)_(6796448 5_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 67,758,808 | 67,964,485 |
nssv18324241 | Remapped | Perfect | NC_000011.10:g.(?_ 67758808)_(6796448 5_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 67,758,808 | 67,964,485 |
nssv18282766 | Submitted genomic | NC_000011.9:g.(?_6 7526279)_(67731956 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 67,526,279 | 67,731,956 | ||
nssv18284446 | Submitted genomic | NC_000011.9:g.(?_6 7526279)_(67731956 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 67,526,279 | 67,731,956 | ||
nssv18291258 | Submitted genomic | NC_000011.9:g.(?_6 7526279)_(67731956 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 67,526,279 | 67,731,956 | ||
nssv18324241 | Submitted genomic | NC_000011.9:g.(?_6 7526279)_(67731956 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 67,526,279 | 67,731,956 |