A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6247359



Internal ID22051969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:88980189..88980189hg38UCSC Ensembl
chr10:90739946..90739946hg19UCSC Ensembl
Cytoband10q23.31
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17841763
Samples
Known GenesACTA2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6247359
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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