A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv607598



Internal ID16048321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76515243..76516897hg38UCSC Ensembl
Innerchr7:76144560..76146214hg19UCSC Ensembl
Innerchr7:75982496..75984150hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg381655
hg191655
hg181655
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1088039, nssv1088041, nssv1088040
Samples
Known GenesUPK3B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv607598
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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