nsv2803233
- 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:11,094
- 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: 605 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 603 SVs from 78 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv2803233 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000021.9 | Chr21 | 22,282,581 | 22,293,674 | ||
| nsv2803233 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 23,654,901 | 23,665,994 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv13702124 | deletion | Sequencing | Genotyping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv13702124 | Submitted genomic | NC_000021.9:g.2228 2581_22293674del11 094 | GRCh38 (hg38) | NC_000021.9 | Chr21 | 22,282,581 | 22,293,674 | ||
| nssv13702124 | Remapped | Perfect | NC_000021.8:g.2365 4901_23665994del11 094 | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 23,654,901 | 23,665,994 |
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) |
|---|---|---|---|
| nssv13702124 | 0.156 | 10 | 64 |