A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043902



Internal ID19133121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:49548704..49615863hg38UCSC Ensembl
Innerchr13:50122840..50189999hg19UCSC Ensembl
Innerchr13:49020841..49088000hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3867160
hg1967160
hg1867160
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1651n100
Supporting Variantsnssv3523455
Samples
Known GenesRCBTB1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1043902
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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