A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052193



Internal ID19141412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20056971..22098952hg38UCSC Ensembl
Innerchr15:20262224..22386903hg19UCSC Ensembl
Innerchr15:18522238..19888267hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382041982
hg192124680
hg181366030
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2181n100
Supporting Variantsnssv3715881
Samples
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, NBEAP1, NF1P2, OR4M2, OR4N4, 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)nsv1052193
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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