nsv5892128
- Organism: Homo sapiens
- Study:nstd209 (Almarri et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:52
- Publication(s):Almarri et al. 2020
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: 185 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 185 SVs from 31 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5892128 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 8,539,910 | 8,539,961 | ||
nsv5892128 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 8,581,596 | 8,581,647 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17426474 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17426474 | Submitted genomic | NC_000003.12:g.853 9910_8539961dup | GRCh38 (hg38) | NC_000003.12 | Chr3 | 8,539,910 | 8,539,961 | ||
nssv17426474 | Remapped | Perfect | NC_000003.11:g.858 1596_8581647dup | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 8,581,596 | 8,581,647 |
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) |
---|---|---|---|
nssv17426474 | 1 | 10 | 10 |