nsv471797
- Organism: Homo sapiens
- Study:nstd34 (Hinds et al. 2005)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:2,045
- Publication(s):Hinds et al. 2005
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: 158 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 54 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 158 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 3 SVs from 3 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Stop |
---|---|---|---|---|---|---|---|---|---|---|
nsv471797 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 65,582,430 | 65,583,130 | 65,584,474 |
nsv471797 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_013171806.1 | Chr10|NW_0 13171806.1 | 83,023 | 83,723 | 85,067 |
nsv471797 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 67,342,188 | 67,342,888 | 67,344,232 |
nsv471797 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000010.8 | Chr10 | 67,012,194 | 67,012,894 | 67,014,238 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv646078 | copy number loss | Oligo aCGH | Probe signal intensity |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Stop |
---|---|---|---|---|---|---|---|---|---|---|
nssv646078 | Remapped | Perfect | NW_013171806.1:g.( 83023_83723)_85067 del | GRCh38.p12 | Second Pass | NW_013171806.1 | Chr10|NW_0 13171806.1 | 83,023 | 83,723 | 85,067 |
nssv646078 | Remapped | Perfect | NC_000010.11:g.(65 582430_65583130)_6 5584474del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 65,582,430 | 65,583,130 | 65,584,474 |
nssv646078 | Remapped | Perfect | NC_000010.10:g.(67 342188_67342888)_6 7344232del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 67,342,188 | 67,342,888 | 67,344,232 |
nssv646078 | Submitted genomic | NC_000010.8:g.(670 12194_67012894)_67 014238del | NCBI35 (hg17) | NC_000010.8 | Chr10 | 67,012,194 | 67,012,894 | 67,014,238 |
Validation Information
Variant Call ID | Experiment ID | Method | Analysis | Result |
---|---|---|---|---|
nssv646078 | 2 | PCR | Manual observation | Pass |