A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6258980



Internal ID22063590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:66752718..66752718hg38UCSC Ensembl
chr14:67219436..67219436hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17847159
Samples
Known GenesGPHN
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6258980
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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