A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583587



Internal ID16370996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:166456941..166516087hg38UCSC Ensembl
Innerchr2:167313451..167372597hg19UCSC Ensembl
Innerchr2:167021697..167080843hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3859147
hg1959147
hg1859147
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv925265
Samples
Known GenesSCN7A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583587
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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