A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11471n54



Internal ID20144895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:76516684..76519888hg38UCSC Ensembl
chr7:76146001..76149205hg19UCSC Ensembl
chr7:75983937..75987141hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg383205
hg193205
hg183205
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv607611, nsv607618, nsv607608
Samples
Known GenesUPK3B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11471n54
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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