A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv607599



Internal ID16048322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76515243..76517611hg38UCSC Ensembl
Innerchr7:76144560..76146928hg19UCSC Ensembl
Innerchr7:75982496..75984864hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg382369
hg192369
hg182369
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11467n54
Supporting Variantsnssv1088042
Samples
Known GenesUPK3B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv607599
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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