A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059310



Internal ID18801841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:14835657..15099694hg38UCSC Ensembl
Innerchr20:14816303..15080340hg19UCSC Ensembl
Innerchr20:14764303..15028340hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38264038
hg19264038
hg18264038
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4270n100
Supporting Variantsnssv3599585
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)nsv1059310
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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