A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582030



Internal ID16369439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:55290355..55358779hg38UCSC Ensembl
Innerchr2:55517491..55585915hg19UCSC Ensembl
Innerchr2:55370995..55439419hg18UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3868425
hg1968425
hg1868425
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151103
SamplesNINDS_145
Known GenesCCDC88A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582030
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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