nsv2789961
- 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:21,678
- 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: 330 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 330 SVs from 69 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv2789961 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 1,894,049 | 1,915,726 | ||
nsv2789961 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 1,915,279 | 1,936,956 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv13686806 | deletion | Sequencing | Genotyping |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv13686806 | Submitted genomic | NC_000011.10:g.189 4049_1915726del216 78 | GRCh38 (hg38) | NC_000011.10 | Chr11 | 1,894,049 | 1,915,726 | ||
nssv13686806 | Remapped | Perfect | NC_000011.9:g.1915 279_1936956del2167 8 | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 1,915,279 | 1,936,956 |
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) |
---|---|---|---|
nssv13686806 | 1 | 64 | 64 |