A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054245



Internal ID19143464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20078801..22046199hg38UCSC Ensembl
Innerchr15:20284054..22334150hg19UCSC Ensembl
Innerchr15:18544068..19835514hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg381967399
hg192050097
hg181291447
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2181n100
Supporting Variantsnssv3716002, nssv3536619, nssv3536617, nssv3536618
Samples
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, NBEAP1, NF1P2, 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)nsv1054245
Frequency
Sample Size11257
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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