nsv2807881
- 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:10,076
- 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: 464 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 464 SVs from 84 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv2807881 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 193,157,541 | 193,167,616 | ||
| nsv2807881 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 192,875,330 | 192,885,405 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv13696011 | deletion | Sequencing | Genotyping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv13696011 | Submitted genomic | NC_000003.12:g.193 157541_193167616de l10076 | GRCh38 (hg38) | NC_000003.12 | Chr3 | 193,157,541 | 193,167,616 | ||
| nssv13696011 | Remapped | Perfect | NC_000003.11:g.192 875330_192885405de l10076 | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 192,875,330 | 192,885,405 |
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) |
|---|---|---|---|
| nssv13696011 | 0.734 | 47 | 64 |