A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064023



Internal ID18806554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:14821067..14912823hg38UCSC Ensembl
Innerchr20:14801713..14893469hg19UCSC Ensembl
Innerchr20:14749713..14841469hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3891757
hg1991757
hg1891757
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4268n100
Supporting Variantsnssv3599576
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)nsv1064023
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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