A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5456031



Internal ID234101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:42828450..42959011hg38UCSC Ensembl
chr5:42828552..42959113hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38130562
hg19130562
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16967654
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5456031
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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