nsv1132997
- Organism: Homo sapiens
- Study:nstd106 (Alsmadi et al. 2014)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:218,300,546
- Publication(s):Alsmadi et al. 2014
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: 476716 SVs from 160 studies. See in: genome view
Overlapping variant regions from other studies: 475047 SVs from 160 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nsv1132997 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 16,516,919 | 234,817,464 |
nsv1132997 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 16,843,414 | 234,953,211 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv3987794 | inversion | KWS1 | Sequencing | Read depth and paired-end mapping | 22,470 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nssv3987794 | Remapped | Good | NC_000001.11:g.(16 516919_?)_(?_23481 7464)inv | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,516,919 | 234,817,464 |
nssv3987794 | Submitted genomic | NC_000001.10:g.(16 843414_?)_(?_23495 3211)inv | GRCh37 (hg19) | NC_000001.10 | Chr1 | 16,843,414 | 234,953,211 |