nsv6135136
- Organism: Homo sapiens
- Study:nstd213 (Pham et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:400,924
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: 1918 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 1216 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 1918 SVs from 95 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6135136 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 179,502,999 | 179,903,001 |
nsv6135136 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_016107298.1 | Chr5|NW_01 6107298.1 | 267,638 | 668,561 |
nsv6135136 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 178,930,000 | 179,330,001 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17678210 | copy number loss | SAMN20524662 | Sequencing | Paired-end mapping | 1,603 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17678210 | Remapped | Good | NW_016107298.1:g.2 67638_668561del | GRCh38.p12 | Second Pass | NW_016107298.1 | Chr5|NW_01 6107298.1 | 267,638 | 668,561 |
nssv17678210 | Remapped | Perfect | NC_000005.10:g.179 502999_179903001de l | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 179,502,999 | 179,903,001 |
nssv17678210 | Submitted genomic | NC_000005.9:g.1789 30000_179330001del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 178,930,000 | 179,330,001 |