A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008147



Internal ID19097366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196745680..196821388hg38UCSC Ensembl
Innerchr1:196714810..196790518hg19UCSC Ensembl
Innerchr1:194981433..195057141hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3875709
hg1975709
hg1875709
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv505n100
Supporting Variantsnssv3495671
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)nsv1008147
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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