A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058344



Internal ID18800875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:31247234..31798808hg38UCSC Ensembl
Innerchr20:29835037..30386611hg19UCSC Ensembl
Innerchr20:29298698..29850272hg18UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg38551575
hg19551575
hg18551575
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4300n100
Supporting Variantsnssv3737190
Samples
Known GenesBCL2L1, COX4I2, DEFB115, DEFB116, DEFB118, DEFB119, DEFB121, DEFB122, DEFB123, DEFB124, HM13, HM13-AS1, ID1, LINC00028, MIR3193, PSIMCT-1, REM1, TPX2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058344
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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