nsv6972720
- Organism: Homo sapiens
- Study:nstd229 (Jun et al. 2023)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:359,728
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: 4921 SVs from 107 studies. See in: genome view
Overlapping variant regions from other studies: 1654 SVs from 52 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6972720 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 106,427,152 | 106,786,879 | ||
| nsv6972720 | Remapped | Pass | GRCh37.p13 | PATCHES | Second Pass | NW_004166863.1 | Chr14|NW_0 04166863.1 | 1,136,601 | 1,405,282 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18383433 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18383433 | Submitted genomic | NC_000014.9:g.1064 27152_106786879del | GRCh38 (hg38) | NC_000014.9 | Chr14 | 106,427,152 | 106,786,879 | ||
| nssv18383433 | Remapped | Pass | NW_004166863.1:g.1 136601_1405282del | GRCh37.p13 | Second Pass | NW_004166863.1 | Chr14|NW_0 04166863.1 | 1,136,601 | 1,405,282 |
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) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv18383433 | 4e-06 | 1 | 270908 |