A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1088459



Internal ID15594959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76516684..76521022hg38UCSC Ensembl
Innerchr7:76146001..76150339hg19UCSC Ensembl
Innerchr7:75983937..75988275hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg384339
hg194339
hg184339
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv607613
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)nssv1088459
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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