A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062274



Internal ID18804805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:14737550..15122658hg38UCSC Ensembl
Innerchr20:14718196..15103304hg19UCSC Ensembl
Innerchr20:14666196..15051304hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38385109
hg19385109
hg18385109
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4257n100
Supporting Variantsnssv3734889
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)nsv1062274
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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