A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048564



Internal ID19137783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20441310..22023848hg38UCSC Ensembl
Innerchr15:20646563..22311799hg19UCSC Ensembl
Innerchr15:18906577..19813163hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg381582539
hg191665237
hg18906587
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2238n100
Supporting Variantsnssv3540876
Samples
Known GenesCT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, NBEAP1, NF1P2, POTEB, POTEB2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048564
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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