nsv6133787
- 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:33,069
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: 906 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 906 SVs from 79 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv6133787 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 1,580,445 | 1,580,451 | 1,613,500 | 1,613,513 |
nsv6133787 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 1,561,091 | 1,561,097 | 1,594,146 | 1,594,159 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17681990 | deletion | SAMN20524658 | Sequencing | Paired-end mapping | 48 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv17681990 | Remapped | Perfect | NC_000020.11:g.(15 80445_1580451)_(16 13500_1613513)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,580,445 | 1,580,451 | 1,613,500 | 1,613,513 |
nssv17681990 | Submitted genomic | NC_000020.10:g.(15 61091_1561097)_(15 94146_1594159)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 1,561,091 | 1,561,097 | 1,594,146 | 1,594,159 |