A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590244



Internal ID16030967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:48464525..48478412hg38UCSC Ensembl
Innerchr3:48505924..48519821hg19UCSC Ensembl
Innerchr3:48480928..48494825hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3813888
hg1913898
hg1813898
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8315n54
Supporting Variantsnssv963011
Samples
Known GenesATRIP, SHISA5, TREX1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590244
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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