A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598000



Internal ID16385409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:45857027..46287010hg38UCSC Ensembl
Innerchr5:45857129..46287112hg19UCSC Ensembl
Innerchr5:45892886..46322869hg18UCSC Ensembl
Cytoband5p11
Allele length
AssemblyAllele length
hg38429984
hg19429984
hg18429984
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9751n54
Supporting Variantsnssv1029691, nssv1153538
Samples1780854532_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598000
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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