nsv1125301
- 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:40,778,785
- 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: 104453 SVs from 150 studies. See in: genome view
Overlapping variant regions from other studies: 104455 SVs from 150 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 |
---|---|---|---|---|---|---|---|---|---|
nsv1125301 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 48,467,544 | 89,246,328 |
nsv1125301 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 48,489,096 | 88,979,496 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv3983473 | inversion | KWS2 | Sequencing | Read depth and paired-end mapping | 21,718 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nssv3983473 | Remapped | Good | NC_000011.10:g.(48 467544_?)_(?_89246 328)inv | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 48,467,544 | 89,246,328 |
nssv3983473 | Submitted genomic | NC_000011.9:g.(484 89096_?)_(?_889794 96)inv | GRCh37 (hg19) | NC_000011.9 | Chr11 | 48,489,096 | 88,979,496 |