A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5464928



Internal ID242799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138099000..138134000hg38UCSC Ensembl
chr5:137434689..137469689hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3835001
hg1935001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16974035
Samples
Known GenesNME5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5464928
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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