A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6464n100



Internal ID20158080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:72700394..72988046hg38UCSC Ensembl
chr7:72165357..72458575hg19UCSC Ensembl
chr7:71803293..72096511hg18UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg38287653
hg19293219
hg18293219
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1019946, nsv1028566
Samples
Known GenesLOC100101148, LOC541473, NSUN5P2, POM121, SBDSP1, SPDYE7P, TRIM73, TRIM74, TYW1B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6464n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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