nsv6134226
- 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:43,710
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: 169 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 169 SVs from 32 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv6134226 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 85,402,350 | 85,402,358 | 85,446,046 | 85,446,059 |
nsv6134226 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 85,629,473 | 85,629,481 | 85,673,169 | 85,673,182 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17680707 | deletion | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv17680707 | Remapped | Perfect | NC_000002.12:g.(85 402350_85402358)_( 85446046_85446059) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 85,402,350 | 85,402,358 | 85,446,046 | 85,446,059 |
nssv17680707 | Submitted genomic | NC_000002.11:g.(85 629473_85629481)_( 85673169_85673182) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 85,629,473 | 85,629,481 | 85,673,169 | 85,673,182 |