A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17024231



Internal ID83893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:68227000..68252552hg38UCSC Ensembl
chr9:70841916..70867468hg19UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg3825553
hg1925553
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6141992
Supporting Variants
Samples
Known GenesCBWD3, CBWD5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17024231
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000817


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