A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598228



Internal ID16385637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:57049154..57086501hg38UCSC Ensembl
Innerchr5:56344981..56382328hg19UCSC Ensembl
Innerchr5:56380738..56418085hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3837348
hg1937348
hg1837348
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1030819
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598228
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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