A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3742879



Internal ID18694474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:87297321..87433251hg38UCSC Ensembl
Innerchr4:88218473..88354403hg19UCSC Ensembl
Innerchr4:88437497..88573427hg18UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg38135931
hg19135931
hg18135931
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1004518
Supporting Variants
Samples
Known GenesHSD17B11, HSD17B13, MIR5705, NUDT9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3742879
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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