A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583567



Internal ID16024290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:165158204..165159252hg38UCSC Ensembl
Innerchr2:166014714..166015762hg19UCSC Ensembl
Innerchr2:165722960..165724008hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg381049
hg191049
hg181049
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7154n54
Supporting Variantsnssv925174, nssv925172, nssv925169, nssv925177, nssv925170, nssv925166, nssv925175, nssv925171, nssv925168, nssv925176, nssv925167, nssv925165, nssv925173
Samples
Known GenesSCN3A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583567
Frequency
Sample Size17421
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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