A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2764870



Internal ID17792356
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 Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974473
Supporting Variants
SamplesHGDP00665
Known GenesMDGA2
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2764870
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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