A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6040022



Internal ID21949365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:77278678..77374639hg38UCSC Ensembl
chr14:77745021..77840982hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3895962
hg1995962
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17598947
Samples
Known GenesGSTZ1, POMT2, TMED8
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6040022
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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