A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583562



Internal ID16024285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:165156121..165159252hg38UCSC Ensembl
Innerchr2:166012631..166015762hg19UCSC Ensembl
Innerchr2:165720877..165724008hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg383132
hg193132
hg183132
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7153n54
Supporting Variantsnssv925150, nssv925149
Samples
Known GenesSCN3A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583562
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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