nsv1159637
- Organism: Homo sapiens
- Study:nstd106 (Alsmadi et al. 2014)
- Variant Type:translocation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- 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: 80 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 516 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 80 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 516 SVs from 62 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
---|---|---|---|---|---|---|---|---|---|---|
nsv1159637 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 50,157,851 | 50,157,851 | - |
nsv1159637 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 42,545,385 | 42,545,385 | - |
nsv1159637 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 50,551,634 | 50,551,634 | - | ||
nsv1159637 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 42,941,391 | 42,941,391 | - |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv4024640 | interchromosomal translocation | KWS2 | Sequencing | Read depth and paired-end mapping | 21,718 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
---|---|---|---|---|---|---|---|---|---|
nssv4024640 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 50,157,851 | 50,157,851 | - |
nssv4024640 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 42,545,385 | 42,545,385 | - |
nssv4024640 | Submitted genomic | GRCh37 (hg19) | NC_000012.11 | Chr12 | 50,551,634 | 50,551,634 | - | ||
nssv4024640 | Submitted genomic | GRCh37 (hg19) | NC_000022.10 | Chr22 | 42,941,391 | 42,941,391 | - |