A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3616115



Internal ID18567710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:3427335..3485595hg38UCSC Ensembl
Innerchr4:3429062..3487322hg19UCSC Ensembl
Innerchr4:3398860..3457120hg18UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg3858261
hg1958261
hg1858261
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1008575
Supporting Variants
Samples
Known GenesDOK7, HGFAC, RGS12
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3616115
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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