A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598520



Internal ID16385929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70080597..70083422hg38UCSC Ensembl
Innerchr5:69376424..69379249hg19UCSC Ensembl
Innerchr5:69412180..69415005hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg382826
hg192826
hg182826
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9851n54
Supporting Variantsnssv1034900
Samples
Known GenesSMA4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598520
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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