nsv124
- Organism: Homo sapiens
- Study:nstd1 (Tuzun et al. 2005)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:42,453
- Publication(s):Tuzun et al. 2005
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 353 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 359 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 8 SVs from 7 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 |
---|---|---|---|---|---|---|---|---|---|
nsv124 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 207,523,529 | 207,565,981 |
nsv124 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 207,696,874 | 207,739,326 |
nsv124 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000001.8 | Chr1 | 204,085,269 | 204,127,721 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv124 | deletion | SAMN00000376 | Sequencing | Paired-end mapping | 297 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nssv124 | Remapped | Perfect | NC_000001.11:g.(20 7523529_?)_(?_2075 65981)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 207,523,529 | 207,565,981 |
nssv124 | Remapped | Perfect | NC_000001.10:g.(20 7696874_?)_(?_2077 39326)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 207,696,874 | 207,739,326 |
nssv124 | Submitted genomic | NC_000001.8:g.(204 085269_?)_(?_20412 7721)del19415 | NCBI35 (hg17) | NC_000001.8 | Chr1 | 204,085,269 | 204,127,721 |