A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5470771



Internal ID248519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:40101278..40101511hg38UCSC Ensembl
chr5:40101380..40101613hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38234
hg19234
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16965279
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5470771
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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