A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564755



Internal ID16352164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:46784802..46907999hg38UCSC Ensembl
Innerchr14:47254005..47377202hg19UCSC Ensembl
Innerchr14:46323755..46446952hg18UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38123198
hg19123198
hg18123198
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3700n54
Supporting Variantsnssv827692
Samples
Known GenesMDGA2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564755
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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