nsv1151136
- Organism: Homo sapiens
- Study:nstd107 (John 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:66,402
- Publication(s):John 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: 1278 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 328 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 1286 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 |
---|---|---|---|---|---|---|---|---|---|---|
nsv1151136 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000024.10 | ChrY | 56,821,552 | - | 56,887,953 |
nsv1151136 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_009646209.1 | ChrY|NW_00 9646209.1 | 34,800 | 101,150 | - |
nsv1151136 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000024.9 | ChrY | 58,967,699 | - | 59,034,100 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv4002073 | duplication | KWB1 | Sequencing | Read depth and paired-end mapping | 8,440 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|
nssv4002073 | Remapped | Good | NW_009646209.1:g.( 34800_?)_(101150_? )dup | GRCh38.p12 | Second Pass | NW_009646209.1 | ChrY|NW_00 9646209.1 | 34,800 | 101,150 | - |
nssv4002073 | Remapped | Perfect | NC_000024.10:g.(56 821552_?)_(?_56887 953)dup | GRCh38.p12 | First Pass | NC_000024.10 | ChrY | 56,821,552 | - | 56,887,953 |
nssv4002073 | Submitted genomic | NC_000024.9:g.(589 67699_?)_(?_590341 00)dup | GRCh37 (hg19) | NC_000024.9 | ChrY | 58,967,699 | - | 59,034,100 |