A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv607595



Internal ID16048318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76513613..76521022hg38UCSC Ensembl
Innerchr7:76142930..76150339hg19UCSC Ensembl
Innerchr7:75980866..75988275hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg387410
hg197410
hg187410
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1088034
Samples
Known GenesUPK3B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv607595
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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