A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598090



Internal ID16385499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:50146132..50218534hg38UCSC Ensembl
Innerchr5:49441966..49514368hg19UCSC Ensembl
Innerchr5:49477723..49550125hg18UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg3872403
hg1972403
hg1872403
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1030143
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598090
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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