A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049066



Internal ID19138285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:48742010..48772269hg38UCSC Ensembl
Innerchr13:49316146..49346405hg19UCSC Ensembl
Innerchr13:48214147..48244406hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3830260
hg1930260
hg1830260
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1650n100
Supporting Variantsnssv3523449
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1049066
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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