A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561556



Internal ID16002279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:42804336..43268151hg38UCSC Ensembl
Innerchr13:43378472..43842287hg19UCSC Ensembl
Innerchr13:42276472..42740287hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38463816
hg19463816
hg18463816
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3129n54
Supporting Variantsnssv809961
Samples
Known GenesDNAJC15, ENOX1, EPSTI1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv561556
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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