A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1045496



Internal ID19134715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20380723..20625059hg38UCSC Ensembl
Innerchr15:20585976..20830362hg19UCSC Ensembl
Innerchr15:18845990..19090376hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38244337
hg19244387
hg18244387
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2249n100
Supporting Variantsnssv3537240, nssv3714628, nssv3714625, nssv3537238, nssv3537239, nssv3537236, nssv3537237, nssv3714626, nssv3714627
Samples
Known GenesGOLGA6L6, 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)nsv1045496
Frequency
Sample Size11257
Observed Gain3
Observed Loss6
Observed Complex0
Frequencyn/a


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