A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583569



Internal ID16024292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:165158204..165159489hg38UCSC Ensembl
Innerchr2:166014714..166015999hg19UCSC Ensembl
Innerchr2:165722960..165724245hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg381286
hg191286
hg181286
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7155n54
Supporting Variantsnssv925184, nssv925183
Samples
Known GenesSCN3A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583569
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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