A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11467n54



Internal ID19003643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:76515243..76518274hg38UCSC Ensembl
chr7:76144560..76147591hg19UCSC Ensembl
chr7:75982496..75985527hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg383032
hg193032
hg183032
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv607600, nsv607599
Samples
Known GenesUPK3B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11467n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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