A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592671



Internal ID16033394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:184539010..184613658hg38UCSC Ensembl
Innerchr3:184256798..184331446hg19UCSC Ensembl
Innerchr3:185739492..185814140hg18UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg3874649
hg1974649
hg1874649
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152559
SamplesNINDS_70
Known GenesEPHB3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592671
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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