nsv3167966
- Organism: Homo sapiens
- Study:nstd158 (Cleal et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:93,871
- Publication(s):Cleal et al. 2019
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: 648 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 648 SVs from 57 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3167966 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 15,145,706 (-140, +140) | 15,239,576 (-140, +140) |
nsv3167966 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 15,126,352 (-140, +140) | 15,220,222 (-140, +140) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14239119 | deletion | DB50 | Sequencing | Paired-end mapping | 40 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14239119 | Remapped | Perfect | NC_000020.11:g.(15 145566_15145846)_( 15239436_15239716) del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 15,145,706 (-140, +140) | 15,239,576 (-140, +140) |
nssv14239119 | Submitted genomic | NC_000020.10:g.(15 126212_15126492)_( 15220082_15220362) del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 15,126,352 (-140, +140) | 15,220,222 (-140, +140) |