A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16947664



Internal ID32469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:7843247..7974036hg38UCSC Ensembl
chr4:7844974..7975763hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38130790
hg19130790
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5436682
Supporting Variants
Samples
Known GenesABLIM2, AFAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16947664
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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