nsv6135570
- 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:360,002
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: 1948 SVs from 109 studies. See in: genome view
Overlapping variant regions from other studies: 521 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 1948 SVs from 109 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6135570 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 143,872,907 | 144,232,908 |
nsv6135570 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_018654715.1 | Chr7|NW_01 8654715.1 | 1 | 187,502 |
nsv6135570 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 143,570,000 | 143,930,001 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17681260 | copy number gain | SAMN20524657 | Sequencing | Paired-end mapping | 656 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17681260 | Remapped | Pass | NW_018654715.1:g.1 _187502dup | GRCh38.p12 | Second Pass | NW_018654715.1 | Chr7|NW_01 8654715.1 | 1 | 187,502 |
nssv17681260 | Remapped | Perfect | NC_000007.14:g.143 872907_144232908du p | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 143,872,907 | 144,232,908 |
nssv17681260 | Submitted genomic | NC_000007.13:g.143 570000_143930001du p | GRCh37 (hg19) | NC_000007.13 | Chr7 | 143,570,000 | 143,930,001 |