A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997593



Internal ID19157129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196740304..196819940hg38UCSC Ensembl
Innerchr1:196709434..196789070hg19UCSC Ensembl
Innerchr1:194976057..195055693hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3879637
hg1979637
hg1879637
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv507n100
Supporting Variantsnssv3485351
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)nsv997593
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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