nsv1125164
- Organism: Homo sapiens
- Study:nstd106 (Alsmadi et al. 2014)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:98,400
- Publication(s):Alsmadi et al. 2014
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: 1248 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 290 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 1255 SVs from 39 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 Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv1125164 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000024.10 | ChrY | 56,821,553 | - | 56,919,952 |
| nsv1125164 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_009646209.1 | ChrY|NW_00 9646209.1 | 34,801 | 101,150 | - |
| nsv1125164 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000024.9 | ChrY | 58,967,700 | - | 59,066,100 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3977969 | duplication | KWS2 | Sequencing | Read depth and paired-end mapping | 21,718 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nssv3977969 | Remapped | Pass | NW_009646209.1:g.( 34801_?)_(101150_? )dup | GRCh38.p12 | Second Pass | NW_009646209.1 | ChrY|NW_00 9646209.1 | 34,801 | 101,150 | - |
| nssv3977969 | Remapped | Good | NC_000024.10:g.(56 821553_?)_(?_56919 952)dup | GRCh38.p12 | First Pass | NC_000024.10 | ChrY | 56,821,553 | - | 56,919,952 |
| nssv3977969 | Submitted genomic | NC_000024.9:g.(589 67700_?)_(?_590661 00)dup | GRCh37 (hg19) | NC_000024.9 | ChrY | 58,967,700 | - | 59,066,100 |