A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050525



Internal ID19139744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20011690..20689298hg38UCSC Ensembl
Innerchr15:20216943..20894627hg19UCSC Ensembl
Innerchr15:18476957..19172949hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38677609
hg19677685
hg18695993
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2187n100
Supporting Variantsnssv3536967, nssv3715759
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)nsv1050525
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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