nsv4709885
- Organism: Homo sapiens
- Study:nstd195 (Mwapagha et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:3
- Publication(s):Mwapagha et al. 2021
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: 666 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 651 SVs from 58 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4709885 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 89,796,868 | 89,796,870 |
nsv4709885 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 89,835,693 | 89,835,694 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv16241254 | deletion | M478 | Sequencing | Paired-end mapping | 1 | 4,557 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16241254 | Remapped | Pass | NC_000002.12:g.897 96868_89796870del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,796,868 | 89,796,870 |
nssv16241254 | Submitted genomic | NC_000002.11:g.898 35693_89835694del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 89,835,693 | 89,835,694 |