A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042787



Internal ID19132006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:63727459..63845410hg38UCSC Ensembl
Innerchr13:64301592..64419543hg19UCSC Ensembl
Innerchr13:63199593..63317544hg18UCSC Ensembl
Cytoband13q21.31
Allele length
AssemblyAllele length
hg38117952
hg19117952
hg18117952
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1689n100
Supporting Variantsnssv3526702, nssv3711794, nssv3526701
Samples
Known GenesLINC00395, OR7E156P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1042787
Frequency
Sample Size11257
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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