A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590177



Internal ID16377586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:45508299..45509915hg38UCSC Ensembl
Innerchr3:45549791..45551407hg19UCSC Ensembl
Innerchr3:45524795..45526411hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg381617
hg191617
hg181617
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv962482
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)nsv590177
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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