A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598654



Internal ID16386063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:75049544..75055403hg38UCSC Ensembl
Innerchr5:74345369..74351228hg19UCSC Ensembl
Innerchr5:74381125..74386984hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg385860
hg195860
hg185860
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1035096
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598654
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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