A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048139



Internal ID19137358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20380723..20614845hg38UCSC Ensembl
Innerchr15:20585976..20820147hg19UCSC Ensembl
Innerchr15:18845990..19080161hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38234123
hg19234172
hg18234172
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2236n100
Supporting Variantsnssv3537234, nssv3537235
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)nsv1048139
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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