A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5434063



Internal ID212751
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 StatusM
Merged Variants
Supporting Variantsnssv16933930
Samples
Known GenesADAMTS9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5434063
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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