A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062307



Internal ID18804838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:14737550..15077027hg38UCSC Ensembl
Innerchr20:14718196..15057673hg19UCSC Ensembl
Innerchr20:14666196..15005673hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38339478
hg19339478
hg18339478
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4257n100
Supporting Variantsnssv3599431
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)nsv1062307
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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