A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053310



Internal ID19142529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20240873..22100273hg38UCSC Ensembl
Innerchr15:20446126..22388224hg19UCSC Ensembl
Innerchr15:18706140..19889588hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg381859401
hg191942099
hg181183449
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2214n100
Supporting Variantsnssv3534743
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)nsv1053310
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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