A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16279941



Internal ID20489159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:76793368..76793368hg38UCSC Ensembl
chr14:77259711..77259711hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4751956
Supporting Variants
Samples
Known GenesANGEL1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16279941
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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