A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046346



Internal ID19135565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20293418..20830154hg38UCSC Ensembl
Innerchr15:20498671..21035483hg19UCSC Ensembl
Innerchr15:18758685..19300010hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38536737
hg19536813
hg18541326
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2210n100
Supporting Variantsnssv3536076
Samples
Known GenesCXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, NBEAP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046346
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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