A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17011187



Internal ID75105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:29567452..29567503hg38UCSC Ensembl
chr8:29424969..29425020hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38245
hg19245
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5402856
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17011187
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001873


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer