A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059672



Internal ID18802203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:31247234..32033468hg38UCSC Ensembl
Innerchr20:29835037..30621271hg19UCSC Ensembl
Innerchr20:29298698..30084932hg18UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg38786235
hg19786235
hg18786235
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4300n100
Supporting Variantsnssv3737191
Samples
Known GenesBCL2L1, CCM2L, COX4I2, DEFB115, DEFB116, DEFB118, DEFB119, DEFB121, DEFB122, DEFB123, DEFB124, DUSP15, FOXS1, HM13, HM13-AS1, ID1, LINC00028, MIR3193, MYLK2, PDRG1, PSIMCT-1, REM1, TPX2, TTLL9, XKR7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1059672
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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