nsv6620271
- 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:36,896
- 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: 680 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 680 SVs from 73 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6620271 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 133,588,696 | 133,625,591 |
nsv6620271 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 135,402,200 | 135,439,095 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18283717 | deletion | OSC2431 | SNP array | Probe signal intensity | 5 |
nssv18286284 | deletion | OSC2712 | SNP array | Probe signal intensity | 5 |
nssv18320254 | deletion | OSC0932 | SNP array | Probe signal intensity | nssv18320253, nssv18320519 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18283717 | Remapped | Perfect | NC_000010.11:g.(?_ 133588696)_(133625 591_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 133,588,696 | 133,625,591 |
nssv18286284 | Remapped | Perfect | NC_000010.11:g.(?_ 133588696)_(133625 591_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 133,588,696 | 133,625,591 |
nssv18320254 | Remapped | Perfect | NC_000010.11:g.(?_ 133588696)_(133625 591_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 133,588,696 | 133,625,591 |
nssv18283717 | Submitted genomic | NC_000010.10:g.(?_ 135402200)_(135439 095_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 135,402,200 | 135,439,095 | ||
nssv18286284 | Submitted genomic | NC_000010.10:g.(?_ 135402200)_(135439 095_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 135,402,200 | 135,439,095 | ||
nssv18320254 | Submitted genomic | NC_000010.10:g.(?_ 135402200)_(135439 095_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 135,402,200 | 135,439,095 |