A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv962458



Internal ID16256414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:45507536..45510406hg38UCSC Ensembl
Innerchr3:45549028..45551898hg19UCSC Ensembl
Innerchr3:45524032..45526902hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg382871
hg192871
hg182871
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv590165
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)nssv962458
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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