A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5470583



Internal ID248338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:43134074..43134153hg38UCSC Ensembl
chr5:43134176..43134255hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16967692
Samples
Known GenesZNF131
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5470583
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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