nsv6135434
- 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:670,002
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: 2582 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 614 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 2582 SVs from 92 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6135434 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 69,034,173 | 69,704,174 |
nsv6135434 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315917.2 | Chr5|NW_00 3315917.2 | 1 | 337,557 |
nsv6135434 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 68,330,000 | 69,000,001 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17681046 | copy number loss | SAMN20524662 | Sequencing | Paired-end mapping | 1,603 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17681046 | Remapped | Pass | NW_003315917.2:g.1 _337557del | GRCh38.p12 | Second Pass | NW_003315917.2 | Chr5|NW_00 3315917.2 | 1 | 337,557 |
nssv17681046 | Remapped | Perfect | NC_000005.10:g.690 34173_69704174del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 69,034,173 | 69,704,174 |
nssv17681046 | Submitted genomic | NC_000005.9:g.6833 0000_69000001del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 68,330,000 | 69,000,001 |