A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1038282



Internal ID19127501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20235273..20666507hg38UCSC Ensembl
Innerchr15:20440526..20871836hg19UCSC Ensembl
Innerchr15:18700540..19131850hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38431235
hg19431311
hg18431311
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2208n100
Supporting Variantsnssv3539465
Samples
Known GenesCHEK2P2, GOLGA6L6, 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)nsv1038282
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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