A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042073



Internal ID18784604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:18517971..18549374hg38UCSC Ensembl
Innerchr10:18806900..18838303hg19UCSC Ensembl
Innerchr10:18846906..18878309hg18UCSC Ensembl
Cytoband10p12.31
Allele length
AssemblyAllele length
hg3831404
hg1931404
hg1831404
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3508959
Samples
Known GenesCACNB2, NSUN6
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1042073
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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