A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974473



Internal ID18609684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:46984538..46987210hg38UCSC Ensembl
Innerchr14:47453741..47456413hg19UCSC Ensembl
Innerchr14:46523491..46526163hg18UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg382673
hg192673
hg182673
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2764870
SamplesHGDP00665
Known GenesMDGA2
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv974473
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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