nsv7079553
- Organism: Homo sapiens
- Study:nstd229 (Jun et al. 2023)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:57,100
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: 321 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 321 SVs from 45 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv7079553 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 151,687,801 | 151,744,900 | ||
nsv7079553 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 150,856,273 | 150,913,372 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv18654505 | duplication | Sequencing | Split read and paired-end mapping |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18654505 | Submitted genomic | NC_000023.11:g.151 687801_151744900du p | GRCh38 (hg38) | NC_000023.11 | ChrX | 151,687,801 | 151,744,900 | ||
nssv18654505 | Remapped | Perfect | NC_000023.10:g.150 856273_150913372du p | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 150,856,273 | 150,913,372 |
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) |
---|---|---|---|
nssv18654505 | 5e-06 | 1 | 200000 |