nsv7014764
- 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:264,200
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: 2101 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 2068 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 1307 SVs from 58 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7014764 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 20,347,101 | 20,611,300 | ||
| nsv7014764 | Remapped | Pass | GRCh37.p13 | Primary Assembly | Second Pass | NC_000019.9 | Chr19 | 20,457,910 | 20,794,106 |
| nsv7014764 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003571053.2 | Chr19|NW_0 03571053.2 | 264,354 | 528,553 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18422501 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18422501 | Submitted genomic | NC_000019.10:g.203 47101_20611300del | GRCh38 (hg38) | NC_000019.10 | Chr19 | 20,347,101 | 20,611,300 | ||
| nssv18422501 | Remapped | Perfect | NW_003571053.2:g.2 64354_528553del | GRCh37.p13 | First Pass | NW_003571053.2 | Chr19|NW_0 03571053.2 | 264,354 | 528,553 |
| nssv18422501 | Remapped | Pass | NC_000019.9:g.2045 7910_20794106del | GRCh37.p13 | Second Pass | NC_000019.9 | Chr19 | 20,457,910 | 20,794,106 |
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) |
|---|---|---|---|
| nssv18422501 | 4e-06 | 1 | 243670 |