nsv6135974
- 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:650,002
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: 2309 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 611 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 2309 SVs from 104 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6135974 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 144,322,907 | 144,972,908 |
| nsv6135974 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_018654715.1 | Chr7|NW_01 8654715.1 | 277,521 | 680,662 |
| nsv6135974 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 144,020,000 | 144,670,001 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17681720 | copy number gain | SAMN20524665 | Sequencing | Paired-end mapping | 405 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17681720 | Remapped | Pass | NW_018654715.1:g.2 77521_680662dup | GRCh38.p12 | Second Pass | NW_018654715.1 | Chr7|NW_01 8654715.1 | 277,521 | 680,662 |
| nssv17681720 | Remapped | Perfect | NC_000007.14:g.144 322907_144972908du p | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 144,322,907 | 144,972,908 |
| nssv17681720 | Submitted genomic | NC_000007.13:g.144 020000_144670001du p | GRCh37 (hg19) | NC_000007.13 | Chr7 | 144,020,000 | 144,670,001 |