nsv6135694
- 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:182,205
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: 733 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 733 SVs from 65 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv6135694 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 2,390,517 | 2,390,520 | 2,572,718 | 2,572,721 |
nsv6135694 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 2,390,751 | 2,390,754 | 2,572,952 | 2,572,955 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17678891 | duplication | SAMN20524656 | Sequencing | Paired-end mapping | 419 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv17678891 | Remapped | Perfect | NC_000006.12:g.(23 90517_2390520)_(25 72718_2572721)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 2,390,517 | 2,390,520 | 2,572,718 | 2,572,721 |
nssv17678891 | Submitted genomic | NC_000006.11:g.(23 90751_2390754)_(25 72952_2572955)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 2,390,751 | 2,390,754 | 2,572,952 | 2,572,955 |