A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564763



Internal ID16352172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:46983850..47032138hg38UCSC Ensembl
Innerchr14:47453053..47501341hg19UCSC Ensembl
Innerchr14:46522803..46571091hg18UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3848289
hg1948289
hg1848289
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1148610
SamplesNINDS_127
Known GenesMDGA2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564763
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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