nsv3169124
- 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:129,800
- 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: 464 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 464 SVs from 54 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3169124 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 81,696,152 (-2, +2) | 81,825,951 (-2, +2) |
nsv3169124 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 81,745,303 (-2, +2) | 81,875,102 (-2, +2) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14239526 | duplication | DB86 | Sequencing | Paired-end mapping | 12 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14239526 | Remapped | Perfect | NC_000003.12:g.(81 696150_81696154)_( 81825949_81825953) dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 81,696,152 (-2, +2) | 81,825,951 (-2, +2) |
nssv14239526 | Submitted genomic | NC_000003.11:g.(81 745301_81745305)_( 81875100_81875104) dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 81,745,303 (-2, +2) | 81,875,102 (-2, +2) |