A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584163



Internal ID16024886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:201711184..201758342hg38UCSC Ensembl
Innerchr2:202575907..202623065hg19UCSC Ensembl
Innerchr2:202284152..202331310hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3847159
hg1947159
hg1847159
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv930354
Samples
Known GenesALS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584163
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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