A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6068830



Internal ID21978063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:18067129..18067129hg38UCSC Ensembl
chr8:17924638..17924638hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17560632
Samples
Known GenesASAH1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6068830
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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