A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv607609



Internal ID16048332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76516684..76519601hg38UCSC Ensembl
Innerchr7:76146001..76148918hg19UCSC Ensembl
Innerchr7:75983937..75986854hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg382918
hg192918
hg182918
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11472n54
Supporting Variantsnssv1088450
Samples
Known GenesUPK3B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv607609
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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