A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6057729



Internal ID21966962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:106467459..106467459hg38UCSC Ensembl
chr2:107083915..107083915hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg38119
hg19119
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17529296
Samples
Known GenesRGPD3
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6057729
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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