nsv6514989
- 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:1,423
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: 283 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 74 SVs from 20 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6514989 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 36,496,511 | 36,497,933 | ||
| nsv6514989 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003315949.1 | Chr17|NW_0 03315949.1 | 381,261 | 382,683 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18035788 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18035788 | Submitted genomic | NC_000017.11:g.364 96511_36497933del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 36,496,511 | 36,497,933 | ||
| nssv18035788 | Remapped | Perfect | NW_003315949.1:g.3 81261_382683del | GRCh37.p13 | First Pass | NW_003315949.1 | Chr17|NW_0 03315949.1 | 381,261 | 382,683 |
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) |
|---|---|---|---|
| nssv18035788 | <0.001 | 2 | 37898 |