nsv6500826
- Organism: Homo sapiens
- Study:nstd223 (Sedlazeck et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:31,230
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: 200 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 200 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6500826 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 7,924,254 | 7,955,483 | ||
| nsv6500826 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 7,827,572 | 7,858,801 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18186488 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18186488 | Submitted genomic | NC_000017.11:g.792 4254_7955483dup | GRCh38 (hg38) | NC_000017.11 | Chr17 | 7,924,254 | 7,955,483 | ||
| nssv18186488 | Remapped | Perfect | NC_000017.10:g.782 7572_7858801dup | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 7,827,572 | 7,858,801 |
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) |
|---|---|---|---|
| nssv18186488 | <0.001 | 1 | 39298 |