A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046326



Internal ID19135545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:47160443..47376700hg38UCSC Ensembl
Innerchr14:47629646..47845903hg19UCSC Ensembl
Innerchr14:46699396..46915653hg18UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38216258
hg19216258
hg18216258
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3531677
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)nsv1046326
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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