A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050494



Internal ID18793025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19811063..22251996hg38UCSC Ensembl
Innerchr15:20016316..22539947hg19UCSC Ensembl
Innerchr15:18276329..20041311hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382440934
hg192523632
hg181764983
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2175n100
Supporting Variantsnssv3715694
Samples
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, NBEAP1, NF1P2, OR4M2, OR4N3P, 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)nsv1050494
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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