A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6109831



Internal ID22019064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:31141266..31141266hg38UCSC Ensembl
chr18:28721229..28721229hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38262
hg19262
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17630927
Samples
Known GenesDSC1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6109831
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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