nsv6327723
- Organism: Homo sapiens
- Study:nstd223 (Sedlazeck et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:349
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: 148 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 151 SVs from 19 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6327723 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 236,268,625 | 236,268,973 | ||
| nsv6327723 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 236,431,925 | 236,432,273 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18058923 | deletion | Sequencing | Sequence alignment |
| nssv18202468 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18058923 | Submitted genomic | NC_000001.11:g.236 268625_236268973de l | GRCh38 (hg38) | NC_000001.11 | Chr1 | 236,268,625 | 236,268,973 | ||
| nssv18202468 | Submitted genomic | NC_000001.11:g.236 268625_236268973du p | GRCh38 (hg38) | NC_000001.11 | Chr1 | 236,268,625 | 236,268,973 | ||
| nssv18058923 | Remapped | Perfect | NC_000001.10:g.236 431925_236432273de l | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 236,431,925 | 236,432,273 |
| nssv18202468 | Remapped | Perfect | NC_000001.10:g.236 431925_236432273du p | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 236,431,925 | 236,432,273 |
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) |
|---|---|---|---|
| nssv18058923 | <0.001 | 1 | 31812 |
| nssv18202468 | <0.001 | 1 | 36838 |