nsv6135571
- 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:250,002
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: 1545 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 468 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 1545 SVs from 105 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6135571 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 143,962,907 | 144,212,908 |
nsv6135571 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_018654715.1 | Chr7|NW_01 8654715.1 | 1 | 167,467 |
nsv6135571 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 143,660,000 | 143,910,001 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17679492 | copy number gain | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv17679492 | Remapped | Pass | NW_018654715.1:g.1 _167467dup | GRCh38.p12 | Second Pass | NW_018654715.1 | Chr7|NW_01 8654715.1 | 1 | 167,467 |
nssv17679492 | Remapped | Perfect | NC_000007.14:g.143 962907_144212908du p | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 143,962,907 | 144,212,908 |
nssv17679492 | Submitted genomic | NC_000007.13:g.143 660000_143910001du p | GRCh37 (hg19) | NC_000007.13 | Chr7 | 143,660,000 | 143,910,001 |