A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054656



Internal ID19143875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20190264..20638246hg38UCSC Ensembl
Innerchr15:20395517..20843550hg19UCSC Ensembl
Innerchr15:18655531..19103564hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38447983
hg19448034
hg18448034
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2209n100
Supporting Variantsnssv3538019, nssv3538020
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)nsv1054656
Frequency
Sample Size11257
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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