A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584487



Internal ID16371896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:217823873..217849963hg38UCSC Ensembl
Innerchr2:218688596..218714686hg19UCSC Ensembl
Innerchr2:218396841..218422931hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3826091
hg1926091
hg1826091
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150828
SamplesNINDS_50
Known GenesTNS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584487
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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