A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592602



Internal ID16380011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:175561108..175616514hg38UCSC Ensembl
Innerchr3:175278896..175334302hg19UCSC Ensembl
Innerchr3:176761590..176816996hg18UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg3855407
hg1955407
hg1855407
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv981606
Samples
Known GenesNAALADL2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592602
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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