A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583573



Internal ID16370982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:165158273..165159148hg38UCSC Ensembl
Innerchr2:166014783..166015658hg19UCSC Ensembl
Innerchr2:165723029..165723904hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38876
hg19876
hg18876
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7154n54
Supporting Variantsnssv925243, nssv925244
Samples
Known GenesSCN3A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583573
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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