nsv5311638
- 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:39,613
- 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: 423 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 280 SVs from 44 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5311638 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000007.14 | Chr7 | 142,578,304 | 142,617,916 | ||
| nsv5311638 | Remapped | Good | GRCh37.p13 | PATCHES | Second Pass | NW_003571040.1 | Chr7|NW_00 3571040.1 | 762,092 | 801,650 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16760954 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16760954 | Submitted genomic | NC_000007.14:g.142 578304_142617916de l | GRCh38.p13 | NC_000007.14 | Chr7 | 142,578,304 | 142,617,916 | ||
| nssv16760954 | Remapped | Good | NW_003571040.1:g.7 62092_801650del | GRCh37.p13 | Second Pass | NW_003571040.1 | Chr7|NW_00 3571040.1 | 762,092 | 801,650 |
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) |
|---|---|
| nssv16760954 | 0.015 |