A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040819



Internal ID19130038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20267586..20625059hg38UCSC Ensembl
Innerchr15:20472839..20830362hg19UCSC Ensembl
Innerchr15:18732853..19090376hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38357474
hg19357524
hg18357524
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2217n100
Supporting Variantsnssv3713681
Samples
Known GenesCHEK2P2, GOLGA6L6, GOLGA8CP, HERC2P3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040819
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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