A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv607588



Internal ID16048311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76488434..76927895hg38UCSC Ensembl
Innerchr7:76117751..76557212hg19UCSC Ensembl
Innerchr7:75955687..76395148hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38439462
hg19439462
hg18439462
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11464n54
Supporting Variantsnssv1088027
Samples
Known GenesDTX2, LOC100133091, POMZP3, UPK3B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv607588
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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