A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6089054



Internal ID21998287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:44320176..44320176hg38UCSC Ensembl
chr12:44713959..44713959hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17606708
Samples
Known GenesTMEM117
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6089054
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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