A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5442740



Internal ID221158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:2820311..2820460hg38UCSC Ensembl
chr4:2822038..2822187hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38150
hg19150
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17735041
Samples
Known GenesSH3BP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5442740
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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