A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050643



Internal ID18793174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:43166264..43216239hg38UCSC Ensembl
Innerchr13:43740400..43790375hg19UCSC Ensembl
Innerchr13:42638400..42688375hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3849976
hg1949976
hg1849976
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1642n100
Supporting Variantsnssv3523416
Samples
Known GenesENOX1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050643
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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