A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16945775



Internal ID31188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:5711341..5711395hg38UCSC Ensembl
chr4:5713068..5713122hg19UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5449742
Supporting Variants
Samples
Known GenesEVC
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16945775
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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