A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060270



Internal ID19149489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:80652..93706hg38UCSC Ensembl
Innerchr20:61293..74347hg19UCSC Ensembl
Innerchr20:9293..22347hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3813055
hg1913055
hg1813055
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4218n100
Supporting Variantsnssv3589938, nssv3589939
Samples
Known GenesDEFB125
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060270
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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