A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv962473



Internal ID16256429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:45507806..45514461hg38UCSC Ensembl
Innerchr3:45549298..45555953hg19UCSC Ensembl
Innerchr3:45524302..45530957hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg386656
hg196656
hg186656
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv590170
Supporting Variants
Samples
Known GenesLARS2, LARS2-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv962473
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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