A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583568



Internal ID16024291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:165158204..165159384hg38UCSC Ensembl
Innerchr2:166014714..166015894hg19UCSC Ensembl
Innerchr2:165722960..165724140hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg381181
hg191181
hg181181
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7154n54
Supporting Variantsnssv925181, nssv925180, nssv925178, nssv925179, nssv925182
Samples
Known GenesSCN3A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583568
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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