A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5442719



Internal ID221139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:23840334..23841015hg38UCSC Ensembl
chr4:23841957..23842638hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg38682
hg19682
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16948524
Samples
Known GenesPPARGC1A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5442719
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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