A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583578



Internal ID16024301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:165158273..165161844hg38UCSC Ensembl
Innerchr2:166014783..166018354hg19UCSC Ensembl
Innerchr2:165723029..165726600hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg383572
hg193572
hg183572
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv925252, nssv925251
Samples
Known GenesSCN3A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583578
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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