A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1088455



Internal ID15594955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76516684..76519888hg38UCSC Ensembl
Innerchr7:76146001..76149205hg19UCSC Ensembl
Innerchr7:75983937..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 StatusS
Merged Variantsnsv607611
Supporting Variants
Samples
Known GenesUPK3B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1088455
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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