A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6747n100



Internal ID19017115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:146519311..146563200hg38UCSC Ensembl
chr7:146216403..146260292hg19UCSC Ensembl
chr7:145847336..145891225hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3843890
hg1943890
hg1843890
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1019592, nsv1030382, nsv1017143, nsv1018729, nsv1032745, nsv1032928
Samples
Known GenesCNTNAP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6747n100
Frequency
Sample Size29084
Observed Gain19
Observed Loss0
Observed Complex0
Frequencyn/a


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