nsv5936121
- 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:2,157
- 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: 115 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 115 SVs from 27 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5936121 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 4,912,686 | 4,914,842 | ||
nsv5936121 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 4,912,698 | 4,914,854 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17408854 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17408854 | Submitted genomic | NC_000019.10:g.491 2686_4914842dup | GRCh38 (hg38) | NC_000019.10 | Chr19 | 4,912,686 | 4,914,842 | ||
nssv17408854 | Remapped | Perfect | NC_000019.9:g.4912 698_4914854dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 4,912,698 | 4,914,854 |
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) |
---|---|---|---|
nssv17408854 | 0.001 | 1 | 1820 |