nsv6137566
- Organism: Homo sapiens
- Study:nstd213 (Pham et al. 2021)
- Variant Type:translocation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
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: 116 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 162 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 116 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 162 SVs from 17 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 |
---|---|---|---|---|---|---|---|---|---|---|
nsv6137566 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 122,971,937 | 122,971,937 | + |
nsv6137566 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 39,175,445 | 39,175,445 | - |
nsv6137566 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 123,456,484 | 123,456,484 | + | ||
nsv6137566 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 40,547,371 | 40,547,371 | - |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17678390 | interchromosomal translocation | SAMN20524664 | Sequencing | Paired-end mapping | 739 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
---|---|---|---|---|---|---|---|---|---|
nssv17678390 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 122,971,937 | 122,971,937 | + |
nssv17678390 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 39,175,445 | 39,175,445 | - |
nssv17678390 | Submitted genomic | GRCh37 (hg19) | NC_000012.11 | Chr12 | 123,456,484 | 123,456,484 | + | ||
nssv17678390 | Submitted genomic | GRCh37 (hg19) | NC_000021.8 | Chr21 | 40,547,371 | 40,547,371 | - |