nsv6992845
- 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:50,600
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: 165 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 165 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 51 SVs from 15 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6992845 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 57,762,701 | 57,813,300 | ||
| nsv6992845 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000016.9 | Chr16 | 57,796,613 | 57,847,212 |
| nsv6992845 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871085.1 | Chr16|NW_0 03871085.1 | 22,592 | 73,191 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18621667 | duplication | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18621667 | Submitted genomic | NC_000016.10:g.577 62701_57813300dup | GRCh38 (hg38) | NC_000016.10 | Chr16 | 57,762,701 | 57,813,300 | ||
| nssv18621667 | Remapped | Perfect | NW_003871085.1:g.2 2592_73191dup | GRCh37.p13 | First Pass | NW_003871085.1 | Chr16|NW_0 03871085.1 | 22,592 | 73,191 |
| nssv18621667 | Remapped | Perfect | NC_000016.9:g.5779 6613_57847212dup | GRCh37.p13 | Second Pass | NC_000016.9 | Chr16 | 57,796,613 | 57,847,212 |
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) |
|---|---|---|---|
| nssv18621667 | 4e-06 | 1 | 274478 |