nsv2818115
- 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:15,723
- 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: 354 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 756 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv2818115 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 2,403,972 | 2,419,694 | ||
| nsv2818115 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000008.10 | Chr8 | 2,248,088 | 2,263,807 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv13706024 | deletion | Sequencing | Genotyping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv13706024 | Submitted genomic | NC_000008.11:g.240 3972_2419694del157 23 | GRCh38 (hg38) | NC_000008.11 | Chr8 | 2,403,972 | 2,419,694 | ||
| nssv13706024 | Remapped | Good | NC_000008.10:g.224 8088_2263807del157 23 | GRCh37.p13 | Second Pass | NC_000008.10 | Chr8 | 2,248,088 | 2,263,807 |
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 Count (AC) | Allele Number (AN) |
|---|---|---|
| nssv13706024 | 0 | 0 |