A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583441



Internal ID16370850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:158366049..158433376hg38UCSC Ensembl
Innerchr2:159222561..159289888hg19UCSC Ensembl
Innerchr2:158930807..158998134hg18UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg3867328
hg1967328
hg1867328
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv922158
Samples
Known GenesCCDC148
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583441
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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