A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583564



Internal ID16024287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:165158204..165158988hg38UCSC Ensembl
Innerchr2:166014714..166015498hg19UCSC Ensembl
Innerchr2:165722960..165723744hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38785
hg19785
hg18785
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv925152, nssv925153, nssv925155, nssv925154, nssv925156
Samples
Known GenesSCN3A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583564
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer