nsv6290112
- Organism: Homo sapiens
- Study:nstd218 (Wijesiriwardhana et al. 2021)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:156,950
- Publication(s):Wijesiriwardhana et al. 2021
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: 1241 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 1241 SVs from 93 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6290112 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 136,680,993 | 136,837,942 |
nsv6290112 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 137,693,236 | 137,850,185 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17955731 | copy number loss | Oligo aCGH | Probe signal intensity |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17955731 | Remapped | Perfect | NC_000008.11:g.(?_ 136680993)_(136837 942_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,680,993 | 136,837,942 |
nssv17955731 | Submitted genomic | NC_000008.10:g.(?_ 137693236)_(137850 185_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,693,236 | 137,850,185 |