A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592548



Internal ID16379957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:174960578..175038361hg38UCSC Ensembl
Innerchr3:174678368..174756151hg19UCSC Ensembl
Innerchr3:176161062..176238845hg18UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg3877784
hg1977784
hg1877784
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8735n54
Supporting Variantsnssv981322
Samples
Known GenesNAALADL2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592548
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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