A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv505n100



Internal ID22786592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196735867..196832930hg38UCSC Ensembl
chr1:196704997..196802060hg19UCSC Ensembl
chr1:194971620..195068683hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3897064
hg1997064
hg1897064
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv999039, nsv1001990, nsv1014427, nsv1000415, nsv997398, nsv1007461, nsv1008147, nsv1013124, nsv1007854, nsv1000027, nsv1002645, nsv1005246, nsv1002523, nsv999725, nsv1005364
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)dgv505n100
Frequency
Sample Size11257
Observed Gain22
Observed Loss0
Observed Complex0
Frequencyn/a


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