nsv5311452
- Organism: Homo sapiens
- Study:nstd204 (Chen et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:578,651
- 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: 1862 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 1863 SVs from 87 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5311452 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000013.11 | Chr13 | 108,530,685 (-10, +9) | 109,109,335 (-9, +9) | ||
nsv5311452 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000013.10 | Chr13 | 109,183,033 (-10, +9) | 109,761,683 (-9, +9) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16736999 | duplication | Sequencing | Split read and paired-end mapping |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16736999 | Submitted genomic | NC_000013.11:g.(10 8530675_108530694) _(109109326_109109 344)dup | GRCh38.p13 | NC_000013.11 | Chr13 | 108,530,685 (-10, +9) | 109,109,335 (-9, +9) | ||
nssv16736999 | Remapped | Perfect | NC_000013.10:g.(10 9183023_109183042) _(109761674_109761 692)dup | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 109,183,033 (-10, +9) | 109,761,683 (-9, +9) |
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) |
---|---|
nssv16736999 | <0.001 |