A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17423661



Internal ID22481531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:49246130..49248072hg38UCSC Ensembl
chr3:49283563..49285505hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg381943
hg191943
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5900885
Supporting Variants
Samples
Known GenesCCDC36
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17423661
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.009


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