A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584072



Internal ID16371481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:193014190..193271097hg38UCSC Ensembl
Innerchr2:193878916..194135822hg19UCSC Ensembl
Innerchr2:193587161..193844067hg18UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38256908
hg19256907
hg18256907
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7235n54
Supporting Variantsnssv1151348, nssv1151347
SamplesHGDP00585, NINDS_206
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584072
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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