A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6062269



Internal ID21971502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:55747287..55747287hg38UCSC Ensembl
chr8:56659846..56659846hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17583753
Samples
Known GenesTMEM68
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6062269
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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