nsv3169197
- 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:137,041
- 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: 390 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 390 SVs from 56 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3169197 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 54,203,242 (-1, +1) | 54,340,282 (-1, +1) |
nsv3169197 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 54,237,269 (-1, +1) | 54,374,309 (-1, +1) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14239542 | duplication | DB75 | Sequencing | Paired-end mapping | 16 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14239542 | Remapped | Perfect | NC_000003.12:g.(54 203241_54203243)_( 54340281_54340283) dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 54,203,242 (-1, +1) | 54,340,282 (-1, +1) |
nssv14239542 | Submitted genomic | NC_000003.11:g.(54 237268_54237270)_( 54374308_54374310) dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 54,237,269 (-1, +1) | 54,374,309 (-1, +1) |