A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1038382



Internal ID18780913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:46681229..46924362hg38UCSC Ensembl
Innerchr14:47150432..47393565hg19UCSC Ensembl
Innerchr14:46220182..46463315hg18UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg38243134
hg19243134
hg18243134
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3713474
Samples
Known GenesMDGA2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1038382
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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