nsv5327452
- 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:1,304
- 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: 111 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 108 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 8 SVs from 7 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5327452 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000019.10 | Chr19 | 41,845,754 (-10, +313) | 41,847,057 (-249, +9) | ||
| nsv5327452 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000019.9 | Chr19 | 42,349,817 (-10, +313) | 42,351,125 (-249, +9) |
| nsv5327452 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004775434.1 | Chr19|NW_0 04775434.1 | 414,793 (-10, +313) | 416,096 (-249, +9) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16765144 | deletion | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16765144 | Submitted genomic | NC_000019.10:g.(41 845744_41846067)_( 41846808_41847066) del | GRCh38.p13 | NC_000019.10 | Chr19 | 41,845,754 (-10, +313) | 41,847,057 (-249, +9) | ||
| nssv16765144 | Remapped | Perfect | NW_004775434.1:g.( 414783_415106)_(41 5847_416105)del | GRCh37.p13 | First Pass | NW_004775434.1 | Chr19|NW_0 04775434.1 | 414,793 (-10, +313) | 416,096 (-249, +9) |
| nssv16765144 | Remapped | Good | NC_000019.9:g.(423 49807_42350130)_(4 2350876_42351134)d el | GRCh37.p13 | Second Pass | NC_000019.9 | Chr19 | 42,349,817 (-10, +313) | 42,351,125 (-249, +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) |
|---|---|
| nssv16765144 | <0.001 |