A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043596



Internal ID19132815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20380723..20638246hg38UCSC Ensembl
Innerchr15:20585976..20843550hg19UCSC Ensembl
Innerchr15:18845990..19103564hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38257524
hg19257575
hg18257575
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2249n100
Supporting Variantsnssv3537242, nssv3537243, nssv3537245, nssv3537244, nssv3714629, nssv3537241, nssv3537246
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)nsv1043596
Frequency
Sample Size11257
Observed Gain2
Observed Loss5
Observed Complex0
Frequencyn/a


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