nsv2801283
- Organism: Homo sapiens
- Study:nstd137 (Huddleston et al. 2016)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:11,297
- Publication(s):Huddleston et al. 2016
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: 334 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 340 SVs from 71 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv2801283 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 212,829,028 | 212,840,324 | ||
| nsv2801283 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 213,002,370 | 213,013,666 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv13685127 | deletion | Sequencing | Genotyping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv13685127 | Submitted genomic | NC_000001.11:g.212 829028_212840324de l11297 | GRCh38 (hg38) | NC_000001.11 | Chr1 | 212,829,028 | 212,840,324 | ||
| nssv13685127 | Remapped | Perfect | NC_000001.10:g.213 002370_213013666de l11297 | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 213,002,370 | 213,013,666 |
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) |
|---|---|---|---|
| nssv13685127 | 0.047 | 3 | 64 |