A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040817



Internal ID19130036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20305889..20674502hg38UCSC Ensembl
Innerchr15:20511142..20879831hg19UCSC Ensembl
Innerchr15:18771156..19139845hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38368614
hg19368690
hg18368690
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2228n100
Supporting Variantsnssv3536101
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)nsv1040817
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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