nsv5327619
- Organism: Homo sapiens
- Study:nstd204 (Chen et al. 2021)
- Variant Type:translocation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):Chen et al. 2021
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: 981 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 106 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 981 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 106 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 |
---|---|---|---|---|---|---|---|---|---|---|
nsv5327619 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000007.14 | Chr7 | 111,413,698 | 111,413,698 | + | ||
nsv5327619 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000012.12 | Chr12 | 107,809,482 | 107,809,482 | + | ||
nsv5327619 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 111,053,754 | 111,053,754 | + |
nsv5327619 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 108,203,259 | 108,203,259 | + |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16747575 | interchromosomal translocation | Sequencing | Split read and paired-end mapping |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
---|---|---|---|---|---|---|---|---|---|
nssv16747575 | Submitted genomic | GRCh38.p13 | NC_000007.14 | Chr7 | 111,413,698 | 111,413,698 | + | ||
nssv16747575 | Submitted genomic | GRCh38.p13 | NC_000012.12 | Chr12 | 107,809,482 | 107,809,482 | + | ||
nssv16747575 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 111,053,754 | 111,053,754 | + |
nssv16747575 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 108,203,259 | 108,203,259 | + |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.
Genotype Information
Variant Call ID | Allele Frequency (AF) |
---|---|
nssv16747575 | 0.361 |