A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590174



Internal ID16377583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:45508002..45513552hg38UCSC Ensembl
Innerchr3:45549494..45555044hg19UCSC Ensembl
Innerchr3:45524498..45530048hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg385551
hg195551
hg185551
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8303n54
Supporting Variantsnssv962478
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)nsv590174
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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