nsv6642096
- 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:6,805
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: 133 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 146 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 25 SVs from 13 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6642096 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 150,372,842 | 150,379,646 | ||
| nsv6642096 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000001.10 | Chr1 | 150,345,318 | 150,352,122 |
| nsv6642096 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 7,188,255 | 7,195,059 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18362220 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18362220 | Submitted genomic | NC_000001.11:g.150 372842_150379646de l | GRCh38 (hg38) | NC_000001.11 | Chr1 | 150,372,842 | 150,379,646 | ||
| nssv18362220 | Remapped | Perfect | NW_003871055.3:g.7 188255_7195059del | GRCh37.p13 | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 7,188,255 | 7,195,059 |
| nssv18362220 | Remapped | Perfect | NC_000001.10:g.150 345318_150352122de l | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 150,345,318 | 150,352,122 |
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) |
|---|---|---|---|
| nssv18362220 | 4e-06 | 1 | 275444 |