A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6476n100



Internal ID20158092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:76445651..76977978hg38UCSC Ensembl
chr7:76074968..76607295hg19UCSC Ensembl
chr7:75912904..76445231hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38532328
hg19532328
hg18532328
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1025595, nsv1022999, nsv1027277, nsv1018548, nsv1033609, nsv1033878, nsv1018827, nsv1024018, nsv1033758, nsv1017192, nsv1031299
Samples
Known GenesDTX2, FDPSP2, LOC100133091, POMZP3, UPK3B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6476n100
Frequency
Sample Size29084
Observed Gain31
Observed Loss0
Observed Complex0
Frequencyn/a


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