A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608327



Internal ID16395736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:120992952..121233024hg38UCSC Ensembl
Innerchr7:120633006..120873078hg19UCSC Ensembl
Innerchr7:120420242..120660314hg18UCSC Ensembl
Cytoband7q31.31
Allele length
AssemblyAllele length
hg38240073
hg19240073
hg18240073
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1093586
Samples
Known GenesCPED1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608327
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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