nsv1159663
- 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: 228 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 239 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 228 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 239 SVs from 41 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 |
---|---|---|---|---|---|---|---|---|---|---|
nsv1159663 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 2,768,358 | 2,768,358 | not reported |
nsv1159663 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 2,768,417 | 2,768,417 | not reported |
nsv1159663 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 2,877,524 | 2,877,524 | not reported | ||
nsv1159663 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 2,877,583 | 2,877,583 | not reported |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv4024670 | intrachromosomal translocation | KWS1 | Sequencing | Read depth and paired-end mapping | 22,470 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
---|---|---|---|---|---|---|---|---|---|
nssv4024670 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 2,768,358 | 2,768,358 | not reported |
nssv4024670 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 2,768,417 | 2,768,417 | not reported |
nssv4024670 | Submitted genomic | GRCh37 (hg19) | NC_000012.11 | Chr12 | 2,877,524 | 2,877,524 | not reported | ||
nssv4024670 | Submitted genomic | GRCh37 (hg19) | NC_000012.11 | Chr12 | 2,877,583 | 2,877,583 | not reported |