A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6241719



Internal ID22046329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:96305006..96305006hg38UCSC Ensembl
chr14:96771343..96771343hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17846553
Samples
Known GenesATG2B
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6241719
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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