A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049991



Internal ID19139210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20078801..22097038hg38UCSC Ensembl
Innerchr15:20284054..22384989hg19UCSC Ensembl
Innerchr15:18544068..19886353hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382018238
hg192100936
hg181342286
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2181n100
Supporting Variantsnssv3536627, nssv3536628
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)nsv1049991
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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