A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4017547



Internal ID22079178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:55630060..55751712hg38UCSC Ensembl
Outerchr5:55615559..55757045hg38UCSC Ensembl
Innerchr5:54925888..55047540hg19UCSC Ensembl
Outerchr5:54911387..55052873hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38141487
hg19141487
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1156347
Supporting Variants
Samples
Known GenesDDX4, SLC38A9
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4017547
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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