nsv6972478
- 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:759,121
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: 11420 SVs from 115 studies. See in: genome view
Overlapping variant regions from other studies: 6471 SVs from 59 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6972478 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 105,863,240 | 106,622,360 | ||
| nsv6972478 | Remapped | Perfect | GRCh37.p13 | PATCHES | Second Pass | NW_004166863.1 | Chr14|NW_0 04166863.1 | 526,407 | 1,285,527 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18384724 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18384724 | Submitted genomic | NC_000014.9:g.1058 63240_106622360del | GRCh38 (hg38) | NC_000014.9 | Chr14 | 105,863,240 | 106,622,360 | ||
| nssv18384724 | Remapped | Perfect | NW_004166863.1:g.5 26407_1285527del | GRCh37.p13 | Second Pass | NW_004166863.1 | Chr14|NW_0 04166863.1 | 526,407 | 1,285,527 |
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) |
|---|---|---|---|
| nssv18384724 | <0.001 | 63 | 200982 |