nsv1069188
- Organism: Homo sapiens
- Study:nstd99 (Thareja et al. 2015)
- Variant Type:translocation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):Thareja et al. 2015
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: 348 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 346 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 348 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 346 SVs from 29 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 |
---|---|---|---|---|---|---|---|---|---|---|
nsv1069188 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 48,605,217 | 48,605,217 | not reported |
nsv1069188 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 48,605,450 | 48,605,450 | not reported |
nsv1069188 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 49,001,029 | 49,001,029 | not reported | ||
nsv1069188 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 49,001,262 | 49,001,262 | not reported |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv3767848 | intrachromosomal translocation | KWP1 | Sequencing | Read depth and paired-end mapping | 11,116 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
---|---|---|---|---|---|---|---|---|---|
nssv3767848 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 48,605,217 | 48,605,217 | not reported |
nssv3767848 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 48,605,450 | 48,605,450 | not reported |
nssv3767848 | Submitted genomic | GRCh37 (hg19) | NC_000022.10 | Chr22 | 49,001,029 | 49,001,029 | not reported | ||
nssv3767848 | Submitted genomic | GRCh37 (hg19) | NC_000022.10 | Chr22 | 49,001,262 | 49,001,262 | not reported |