A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052341



Internal ID19141560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19989473..22295446hg38UCSC Ensembl
Innerchr15:20194726..22583397hg19UCSC Ensembl
Innerchr15:18454740..20084761hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382305974
hg192388672
hg181630022
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2181n100
Supporting Variantsnssv3534455
Samples
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, NBEAP1, NF1P2, OR4M2, OR4N3P, OR4N4, POTEB, POTEB2, REREP3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1052341
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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