nsv3399648
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:80,700
- 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: 475 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 393 SVs from 59 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3399648 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 67,372,301 (-100, +100) | 67,453,000 (-100, +100) | ||
nsv3399648 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 65,740,800 (-100, +100) | 65,821,499 (-100, +100) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14775910 | duplication | SAMN03838746 | Sequencing | de novo and local sequence assembly | 26,336 |
nssv14781457 | duplication | SAMN05181962 | Sequencing | de novo and local sequence assembly | 23,563 |
nssv14785150 | duplication | SAMN05603745 | Sequencing | de novo and local sequence assembly | 27,447 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14775910 | Submitted genomic | NC_000009.12:g.(67 372201_67372401)_( 67452900_67453100) dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 67,372,301 (-100, +100) | 67,453,000 (-100, +100) | ||
nssv14781457 | Submitted genomic | NC_000009.12:g.(67 372201_67372401)_( 67452900_67453100) dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 67,372,301 (-100, +100) | 67,453,000 (-100, +100) | ||
nssv14785150 | Submitted genomic | NC_000009.12:g.(67 372201_67372401)_( 67452900_67453100) dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 67,372,301 (-100, +100) | 67,453,000 (-100, +100) | ||
nssv14775910 | Remapped | Perfect | NC_000009.11:g.(65 740700_65740900)_( 65821399_65821599) dupNC_000009.11:g. (65740700_65740900 )_(65821399_658215 99)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 65,740,800 (-100, +100) | 65,821,499 (-100, +100) |
nssv14781457 | Remapped | Perfect | NC_000009.11:g.(65 740700_65740900)_( 65821399_65821599) dupNC_000009.11:g. (65740700_65740900 )_(65821399_658215 99)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 65,740,800 (-100, +100) | 65,821,499 (-100, +100) |
nssv14785150 | Remapped | Perfect | NC_000009.11:g.(65 740700_65740900)_( 65821399_65821599) dupNC_000009.11:g. (65740700_65740900 )_(65821399_658215 99)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 65,740,800 (-100, +100) | 65,821,499 (-100, +100) |