A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011322



Internal ID19100539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196740093..196792678hg38UCSC Ensembl
Innerchr1:196709223..196761808hg19UCSC Ensembl
Innerchr1:194975846..195028431hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3852586
hg1952586
hg1852586
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv506n100
Supporting Variantsnssv3491096
Samples
Known GenesCFH, CFHR3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1011322
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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