A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16947687



Internal ID32487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:9664808..10441581hg38UCSC Ensembl
chr4:9666432..10443205hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38776774
hg19776774
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5438903
Supporting Variants
Samples
Known GenesDRD5, MIR3138, SLC2A9, WDR1, ZNF518B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16947687
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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