A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599339



Internal ID16386748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:109712432..109797767hg38UCSC Ensembl
Innerchr5:109048133..109133468hg19UCSC Ensembl
Innerchr5:109076032..109161367hg18UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg3885336
hg1985336
hg1885336
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153575
Samples1782681080_A
Known GenesMAN2A1, MIR548C, MIR548Z
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599339
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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