A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999725



Internal ID19159261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196740093..196832708hg38UCSC Ensembl
Innerchr1:196709223..196801838hg19UCSC Ensembl
Innerchr1:194975846..195068461hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3892616
hg1992616
hg1892616
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv505n100
Supporting Variantsnssv3483690
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)nsv999725
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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