A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1156347



Internal ID22084823
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4017547
Samples
Known GenesDDX4, SLC38A9
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nsv1156347
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer