A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053016



Internal ID19142235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20380723..20688370hg38UCSC Ensembl
Innerchr15:20585976..20893699hg19UCSC Ensembl
Innerchr15:18845990..19153713hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38307648
hg19307724
hg18307724
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2231n100
Supporting Variantsnssv3714638, nssv3537254, nssv3714637
Samples
Known GenesGOLGA6L6, 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)nsv1053016
Frequency
Sample Size11257
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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