A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5440244



Internal ID218759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:129400659..129408776hg38UCSC Ensembl
chr3:129119502..129127619hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg388118
hg198118
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16939167
Samples
Known GenesEFCAB12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5440244
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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