nsv3168213
- 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:47,127
- 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: 303 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 303 SVs from 43 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3168213 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 15,202,863 (-1, +1) | 15,249,989 (-1, +1) |
nsv3168213 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 15,183,509 (-1, +1) | 15,230,635 (-1, +1) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14239372 | deletion | DB105 | Sequencing | Paired-end mapping | 13 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14239372 | Remapped | Perfect | NC_000020.11:g.(15 202862_15202864)_( 15249988_15249990) del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 15,202,863 (-1, +1) | 15,249,989 (-1, +1) |
nssv14239372 | Submitted genomic | NC_000020.10:g.(15 183508_15183510)_( 15230634_15230636) del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 15,183,509 (-1, +1) | 15,230,635 (-1, +1) |