A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5439323



Internal ID217862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:81504277..81504344hg38UCSC Ensembl
chr3:81553428..81553495hg19UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16936249
Samples
Known GenesGBE1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5439323
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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