A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046939



Internal ID19136158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20288172..20418941hg38UCSC Ensembl
Innerchr15:20493425..20624194hg19UCSC Ensembl
Innerchr15:18753439..18884208hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38130770
hg19130770
hg18130770
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2227n100
Supporting Variantsnssv3536064
Samples
Known GenesCHEK2P2, HERC2P3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046939
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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