nsv5200265
- 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:13,408
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: 187 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 187 SVs from 41 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5200265 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 23,594,016 | 23,607,423 |
nsv5200265 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000016.9 | Chr16 | 23,605,337 | 23,618,744 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis |
---|---|---|---|---|
nssv16736561 | duplication | 1 | Sequencing | Split read mapping |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16736561 | Remapped | Perfect | NC_000016.10:g.235 94016_23607423dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 23,594,016 | 23,607,423 |
nssv16736561 | Submitted genomic | NC_000016.9:g.2360 5337_23618744dup | GRCh37.p13 | NC_000016.9 | Chr16 | 23,605,337 | 23,618,744 |