A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054247



Internal ID18796778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:50427117..50482067hg38UCSC Ensembl
Innerchr14:50893835..50948785hg19UCSC Ensembl
Innerchr14:49963585..50018535hg18UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3854951
hg1954951
hg1854951
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3531017
Samples
Known GenesMAP4K5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054247
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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