A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16933805



Internal ID23276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:49246125..49248110hg38UCSC Ensembl
chr3:49283558..49285543hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg381986
hg191986
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5446631
Supporting Variants
Samples
Known GenesCCDC36
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16933805
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.02233


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