A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050554



Internal ID19139773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20235273..20674502hg38UCSC Ensembl
Innerchr15:20440526..20879831hg19UCSC Ensembl
Innerchr15:18700540..19139845hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38439230
hg19439306
hg18439306
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2208n100
Supporting Variantsnssv3539466
Samples
Known GenesCHEK2P2, GOLGA6L6, GOLGA8CP, HERC2P3, NBEAP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050554
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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