A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv607611



Internal ID16048334
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 StatusM
Merged Variantsdgv11471n54
Supporting Variantsnssv1088457, nssv1088455, nssv1088456
Samples
Known GenesUPK3B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv607611
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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