A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5457141



Internal ID235193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:44189142..44197156hg38UCSC Ensembl
chr5:44189244..44197258hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg388015
hg198015
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16965397
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5457141
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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