A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3704895



Internal ID19003176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196742045..196843388hg38UCSC Ensembl
Innerchr1:196711175..196812518hg19UCSC Ensembl
Innerchr1:194977798..195079141hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38101344
hg19101344
hg18101344
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1011310
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)nssv3704895
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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