A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5457426



Internal ID235469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138958592..138958804hg38UCSC Ensembl
chr5:138294281..138294493hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38213
hg19213
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16974106
Samples
Known GenesSIL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5457426
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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