A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056236



Internal ID18798767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:14952238..15141996hg38UCSC Ensembl
Innerchr20:14932884..15122642hg19UCSC Ensembl
Innerchr20:14880884..15070642hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38189759
hg19189759
hg18189759
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4274n100
Supporting Variantsnssv3599615
Samples
Known GenesMACROD2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056236
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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