A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584037



Internal ID16371446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:187443913..187453460hg38UCSC Ensembl
Innerchr2:188308640..188318187hg19UCSC Ensembl
Innerchr2:188016885..188026432hg18UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg389548
hg199548
hg189548
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151341
Samples1782681274_A
Known GenesCALCRL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584037
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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