A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564773



Internal ID16352182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:47228599..47248595hg38UCSC Ensembl
Innerchr14:47697802..47717798hg19UCSC Ensembl
Innerchr14:46767552..46787548hg18UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3819997
hg1919997
hg1819997
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv827706, nssv827705
Samples
Known GenesMDGA2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564773
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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