A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3494604



Internal ID19082245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196740093..196830146hg38UCSC Ensembl
Innerchr1:196709223..196799276hg19UCSC Ensembl
Innerchr1:194975846..195065899hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3890054
hg1990054
hg1890054
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1007854
Supporting Variants
Samples
Known GenesCFH, CFHR1, CFHR3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3494604
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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