A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3493813



Internal ID19081454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196787880..196932623hg38UCSC Ensembl
Innerchr1:196757010..196901753hg19UCSC Ensembl
Innerchr1:195023633..195168376hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38144744
hg19144744
hg18144744
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1011169
Supporting Variants
Samples
Known GenesCFHR1, CFHR3, CFHR4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3493813
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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