A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592550



Internal ID16033273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:175143245..175354813hg38UCSC Ensembl
Innerchr3:174861035..175072602hg19UCSC Ensembl
Innerchr3:176343729..176555296hg18UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg38211569
hg19211568
hg18211568
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152878
SamplesHGDP00112
Known GenesNAALADL2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592550
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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