A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065102



Internal ID18807633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:31247234..31423410hg38UCSC Ensembl
Innerchr20:29835037..30011213hg19UCSC Ensembl
Innerchr20:29298698..29474874hg18UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg38176177
hg19176177
hg18176177
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4299n100
Supporting Variantsnssv3584728
Samples
Known GenesDEFB115, DEFB116, DEFB118, DEFB119, DEFB121, DEFB122
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1065102
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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