nsv471774
- 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:1,795
- 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: 258 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 64 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 263 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 3 SVs from 2 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 | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv471774 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 235,373,429 | 235,373,644 | 235,374,973 | 235,375,223 |
nsv471774 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_014040927.1 | Chr1|NW_01 4040927.1 | 13,230 | 13,445 | 14,774 | 15,024 |
nsv471774 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 235,536,744 | 235,536,959 | 235,538,288 | 235,538,538 |
nsv471774 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000001.8 | Chr1 | 231,862,785 | 231,863,000 | 231,864,329 | 231,864,579 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv646055 | 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 | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv646055 | Remapped | Perfect | NW_014040927.1:g.( 13230_13445)_(1477 4_15024)del | GRCh38.p12 | Second Pass | NW_014040927.1 | Chr1|NW_01 4040927.1 | 13,230 | 13,445 | 14,774 | 15,024 |
nssv646055 | Remapped | Perfect | NC_000001.11:g.(23 5373429_235373644) _(235374973_235375 223)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 235,373,429 | 235,373,644 | 235,374,973 | 235,375,223 |
nssv646055 | Remapped | Perfect | NC_000001.10:g.(23 5536744_235536959) _(235538288_235538 538)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 235,536,744 | 235,536,959 | 235,538,288 | 235,538,538 |
nssv646055 | Submitted genomic | NC_000001.8:g.(231 862785_231863000)_ (231864329_2318645 79)del | NCBI35 (hg17) | NC_000001.8 | Chr1 | 231,862,785 | 231,863,000 | 231,864,329 | 231,864,579 |
Validation Information
Variant Call ID | Experiment ID | Method | Analysis | Result |
---|---|---|---|---|
nssv646055 | 2 | PCR | Manual observation | Pass |