A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6056091



Internal ID21965325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:235010815..235010815hg38UCSC Ensembl
chr2:235919459..235919459hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17522558
Samples
Known GenesSH3BP4
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6056091
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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