A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054123



Internal ID19143342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20351177..20614845hg38UCSC Ensembl
Innerchr15:20556430..20820147hg19UCSC Ensembl
Innerchr15:18816444..19080161hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38263669
hg19263718
hg18263718
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2244n100
Supporting Variantsnssv3536345, nssv3713760
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)nsv1054123
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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