A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561553



Internal ID16002276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:42767972..43316240hg38UCSC Ensembl
Innerchr13:43342108..43890376hg19UCSC Ensembl
Innerchr13:42240108..42788376hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38548269
hg19548269
hg18548269
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3129n54
Supporting Variantsnssv809959
Samples
Known GenesDNAJC15, ENOX1, EPSTI1, FAM216B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv561553
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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