A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054216



Internal ID19143435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20086048..20689298hg38UCSC Ensembl
Innerchr15:20291301..20894627hg19UCSC Ensembl
Innerchr15:18551315..19172949hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38603251
hg19603327
hg18621635
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2195n100
Supporting Variantsnssv3537917
Samples
Known GenesCHEK2P2, GOLGA6L6, GOLGA8CP, HERC2P3, NBEAP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054216
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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