A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3616101



Internal ID18567696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:857569..948872hg38UCSC Ensembl
Innerchr4:851357..942660hg19UCSC Ensembl
Innerchr4:841357..932660hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3891304
hg1991304
hg1891304
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1010196
Supporting Variants
Samples
Known GenesGAK, TMEM175
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3616101
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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