A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv607610



Internal ID16048333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76516684..76519719hg38UCSC Ensembl
Innerchr7:76146001..76149036hg19UCSC Ensembl
Innerchr7:75983937..75986972hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg383036
hg193036
hg183036
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11470n54
Supporting Variantsnssv1088451, nssv1088452, nssv1088454, nssv1088453
Samples
Known GenesUPK3B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv607610
Frequency
Sample Size17421
Observed Gain2
Observed Loss2
Observed Complex0
Frequencyn/a


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