A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5454549



Internal ID232648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:56589951..56597951hg38UCSC Ensembl
chr4:57456117..57464117hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg388001
hg198001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16950164
Samples
Known GenesTHEGL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5454549
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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