A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv607619



Internal ID16048342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76516953..76518274hg38UCSC Ensembl
Innerchr7:76146270..76147591hg19UCSC Ensembl
Innerchr7:75984206..75985527hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg381322
hg191322
hg181322
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1088465
Samples
Known GenesUPK3B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv607619
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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