A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17598947



Internal ID21790992
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 StatusS
Merged Variantsnsv6040022
Supporting Variants
Samples
Known GenesGSTZ1, POMT2, TMED8
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17598947
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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