A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053408



Internal ID19142627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20078801..20402808hg38UCSC Ensembl
Innerchr15:20284054..20608061hg19UCSC Ensembl
Innerchr15:18544068..18868075hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38324008
hg19324008
hg18324008
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2199n100
Supporting Variantsnssv3540030
Samples
Known GenesCHEK2P2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1053408
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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