nsv6133332
- 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:7,840,002
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: 19302 SVs from 117 studies. See in: genome view
Overlapping variant regions from other studies: 19310 SVs from 117 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6133332 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 27,390,036 | 35,230,037 |
nsv6133332 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 24,970,000 | 32,810,001 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17677772 | copy number gain | SAMN20524655 | Sequencing | Paired-end mapping | 909 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17677772 | Remapped | Perfect | NC_000018.10:g.273 90036_35230037dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 27,390,036 | 35,230,037 |
nssv17677772 | Submitted genomic | NC_000018.9:g.2497 0000_32810001dup | GRCh37 (hg19) | NC_000018.9 | Chr18 | 24,970,000 | 32,810,001 |