nsv5909122
- 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:40,507
- 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: 200 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 200 SVs from 35 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5909122 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 122,820,722 | 122,861,228 | ||
nsv5909122 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 125,583,001 | 125,623,507 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17440330 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17440330 | Submitted genomic | NC_000009.12:g.122 820722_122861228du p | GRCh38 (hg38) | NC_000009.12 | Chr9 | 122,820,722 | 122,861,228 | ||
nssv17440330 | Remapped | Perfect | NC_000009.11:g.125 583001_125623507du p | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 125,583,001 | 125,623,507 |
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) |
---|---|---|---|
nssv17440330 | 0.001 | 1 | 1802 |