A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv553n100



Internal ID22786640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196843365..196940503hg38UCSC Ensembl
chr1:196812495..196909633hg19UCSC Ensembl
chr1:195079118..195176256hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3897139
hg1997139
hg1897139
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv999068, nsv1001649, nsv999565, nsv1007136, nsv1013557, nsv1006845, nsv1011176, nsv1001860, nsv998359, nsv1002597
Samples
Known GenesCFHR4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv553n100
Frequency
Sample Size11257
Observed Gain14
Observed Loss128
Observed Complex0
Frequencyn/a


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