A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5991660



Internal ID21901003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:149166256..149166804hg38UCSC Ensembl
chr3:148884043..148884591hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg38549
hg19549
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17543507
Samples
Known GenesCP, HPS3
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5991660
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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