A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065527



Internal ID18808058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:14916944..14985177hg38UCSC Ensembl
Innerchr20:14897590..14965823hg19UCSC Ensembl
Innerchr20:14845590..14913823hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3868234
hg1968234
hg1868234
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4275n100
Supporting Variantsnssv3737158
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)nsv1065527
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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