A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583566



Internal ID16024289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:165158204..165159148hg38UCSC Ensembl
Innerchr2:166014714..166015658hg19UCSC Ensembl
Innerchr2:165722960..165723904hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38945
hg19945
hg18945
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7154n54
Supporting Variantsnssv925163, nssv925160, nssv925159, nssv925161, nssv925162, nssv925164
Samples
Known GenesSCN3A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583566
Frequency
Sample Size17421
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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