A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042011



Internal ID19131230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:46924362..47039947hg38UCSC Ensembl
Innerchr14:47393565..47509150hg19UCSC Ensembl
Innerchr14:46463315..46578900hg18UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38115586
hg19115586
hg18115586
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3531675
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)nsv1042011
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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