A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6240387



Internal ID22044997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:11927068..11927068hg38UCSC Ensembl
chr10:11969067..11969067hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17841817
Samples
Known GenesUPF2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6240387
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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