nsv6135047
- 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:294,380
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: 766 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 766 SVs from 63 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv6135047 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 89,842,037 | 89,842,038 | 90,136,405 | 90,136,416 |
nsv6135047 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 90,763,188 | 90,763,189 | 91,057,556 | 91,057,567 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17681290 | duplication | SAMN20524662 | Sequencing | Paired-end mapping | 1,603 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv17681290 | Remapped | Perfect | NC_000004.12:g.(89 842037_89842038)_( 90136405_90136416) dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 89,842,037 | 89,842,038 | 90,136,405 | 90,136,416 |
nssv17681290 | Submitted genomic | NC_000004.11:g.(90 763188_90763189)_( 91057556_91057567) dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 90,763,188 | 90,763,189 | 91,057,556 | 91,057,567 |