A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061643



Internal ID18804174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:14887707..15039985hg38UCSC Ensembl
Innerchr20:14868353..15020631hg19UCSC Ensembl
Innerchr20:14816353..14968631hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38152279
hg19152279
hg18152279
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4273n100
Supporting Variantsnssv3599598
Samples
Known GenesMACROD2, MACROD2-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1061643
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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