A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013103



Internal ID19102321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196740093..196819859hg38UCSC Ensembl
Innerchr1:196709223..196788989hg19UCSC Ensembl
Innerchr1:194975846..195055612hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3879767
hg1979767
hg1879767
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv507n100
Supporting Variantsnssv3494104
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)nsv1013103
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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