nsv471517
- Organism: Homo sapiens
- Study:nstd31 (Alkan et al. 2009)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI35 (hg17)
- Variant Calls:2
- Validation:Yes
- Clinical Assertions: No
- Region Size:49,144
- Description:OR2T10
- Publication(s):Alkan et al. 2009
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: 1314 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 1319 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 43 SVs from 10 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nsv471517 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 248,582,659 | 248,631,802 |
nsv471517 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 248,745,960 | 248,795,103 |
nsv471517 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000001.8 | Chr1 | 245,072,001 | 245,121,144 |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nssv547885 | Remapped | Perfect | NC_000001.11:g.(24 8582659_?)_(?_2486 31802)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 248,582,659 | 248,631,802 |
nssv547886 | Remapped | Perfect | NC_000001.11:g.(24 8582659_?)_(?_2486 31802)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 248,582,659 | 248,631,802 |
nssv547885 | Remapped | Perfect | NC_000001.10:g.(24 8745960_?)_(?_2487 95103)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 248,745,960 | 248,795,103 |
nssv547886 | Remapped | Perfect | NC_000001.10:g.(24 8745960_?)_(?_2487 95103)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 248,745,960 | 248,795,103 |
nssv547885 | Submitted genomic | NC_000001.8:g.(245 072001_?)_(?_24512 1144)del | NCBI35 (hg17) | NC_000001.8 | Chr1 | 245,072,001 | 245,121,144 | ||
nssv547886 | Submitted genomic | NC_000001.8:g.(245 072001_?)_(?_24512 1144)del | NCBI35 (hg17) | NC_000001.8 | Chr1 | 245,072,001 | 245,121,144 |
Validation Information
Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
---|---|---|---|---|---|
nssv547885 | 3 | JDW | Oligo aCGH | Probe signal intensity | Pass |
nssv547886 | 3 | YH | Oligo aCGH | Probe signal intensity | Pass |