A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592824



Internal ID16380233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:191343425..191355439hg38UCSC Ensembl
Innerchr3:191061214..191073228hg19UCSC Ensembl
Innerchr3:192543908..192555922hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3812015
hg1912015
hg1812015
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152290, nssv1152289
SamplesNINDS_50, NINDS_232
Known GenesCCDC50
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592824
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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