nsv6620731
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:391,261
- 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: 1060 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 1060 SVs from 74 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6620731 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 26,994,143 | 27,385,403 |
nsv6620731 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 27,015,690 | 27,406,950 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18308579 | duplication | OSC0715 | SNP array | Probe signal intensity | 8 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18308579 | Remapped | Perfect | NC_000011.10:g.(?_ 26994143)_(2738540 3_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 26,994,143 | 27,385,403 |
nssv18308579 | Submitted genomic | NC_000011.9:g.(?_2 7015690)_(27406950 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 27,015,690 | 27,406,950 |