nsv5200264
- Organism: Homo sapiens
- Study:nstd205 (Kwong 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:3,544
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: 191 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 191 SVs from 30 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5200264 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 32,394,786 | 32,398,329 |
nsv5200264 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000013.10 | Chr13 | 32,968,923 | 32,972,466 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis |
---|---|---|---|---|
nssv16736574 | deletion | 14 | Sequencing | Split read mapping |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16736574 | Remapped | Perfect | NC_000013.11:g.323 94786_32398329del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 32,394,786 | 32,398,329 |
nssv16736574 | Submitted genomic | NC_000013.10:g.329 68923_32972466del | GRCh37.p13 | NC_000013.10 | Chr13 | 32,968,923 | 32,972,466 |