A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv539n100



Internal ID22786626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196798270..196947657hg38UCSC Ensembl
chr1:196767400..196916787hg19UCSC Ensembl
chr1:195034023..195183410hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38149388
hg19149388
hg18149388
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1014288, nsv1005384, nsv1014982, nsv1003237, nsv1005490, nsv1009646, nsv1009483, nsv997545
Samples
Known GenesCFHR1, CFHR2, CFHR4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv539n100
Frequency
Sample Size11257
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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