nsv6505560
- 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:26,500
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: 357 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 106 SVs from 25 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6505560 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 36,479,001 | 36,505,500 | ||
| nsv6505560 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003315949.1 | Chr17|NW_0 03315949.1 | 363,751 | 390,250 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18197038 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18197038 | Submitted genomic | NC_000017.11:g.364 79001_36505500dup | GRCh38 (hg38) | NC_000017.11 | Chr17 | 36,479,001 | 36,505,500 | ||
| nssv18197038 | Remapped | Perfect | NW_003315949.1:g.3 63751_390250dup | GRCh37.p13 | First Pass | NW_003315949.1 | Chr17|NW_0 03315949.1 | 363,751 | 390,250 |
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) |
|---|---|---|---|
| nssv18197038 | <0.001 | 3 | 39142 |