A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16948886



Internal ID33280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:39704934..39715125hg38UCSC Ensembl
chr4:39706554..39716745hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3810192
hg1910192
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5454705
Supporting Variants
Samples
Known GenesUBE2K
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16948886
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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