A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5457267



Internal ID235316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180425324..180461324hg38UCSC Ensembl
chr5:179852324..179888324hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3836001
hg1936001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16977781
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5457267
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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