A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599198



Internal ID16386607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:103892928..103923235hg38UCSC Ensembl
Innerchr5:103228629..103258936hg19UCSC Ensembl
Innerchr5:103256528..103286835hg18UCSC Ensembl
Cytoband5q21.2
Allele length
AssemblyAllele length
hg3830308
hg1930308
hg1830308
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9978n54
Supporting Variantsnssv1153976
SamplesNINDS_42
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599198
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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