nsv3342123
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:24,047
- Publication(s):Audano et al. 2019
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: 710 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 710 SVs from 82 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3342123 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000013.11 | Chr13 | 68,670,569 | 68,694,615 | ||
| nsv3342123 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000013.10 | Chr13 | 69,244,701 | 69,268,747 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14545983 | deletion | SAMN09690649 | Sequencing | de novo and local sequence assembly | 21,495 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14545983 | Submitted genomic | NC_000013.11:g.686 70569_68694615del | GRCh38 (hg38) | NC_000013.11 | Chr13 | 68,670,569 | 68,694,615 | ||
| nssv14545983 | Remapped | Perfect | NC_000013.10:g.692 44701_69268747delN C_000013.10:g.6924 4701_69268747del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 69,244,701 | 69,268,747 |