A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040174



Internal ID19129393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20380825..20625059hg38UCSC Ensembl
Innerchr15:20586078..20830362hg19UCSC Ensembl
Innerchr15:18846092..19090376hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38244235
hg19244285
hg18244285
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2266n100
Supporting Variantsnssv3538665
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)nsv1040174
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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