A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1045813



Internal ID19135032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20327352..20647773hg38UCSC Ensembl
Innerchr15:20532605..20853080hg19UCSC Ensembl
Innerchr15:18792619..19113094hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38320422
hg19320476
hg18320476
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2236n100
Supporting Variantsnssv3536167
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)nsv1045813
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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