A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16933930



Internal ID23356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:64652871..64652962hg38UCSC Ensembl
chr3:64638547..64638638hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5434063
Supporting Variants
Samples
Known GenesADAMTS9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16933930
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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