A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6042811



Internal ID21952123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:106069148..106069148hg38UCSC Ensembl
chr2:106685604..106685604hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17521350
Samples
Known GenesC2orf40
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6042811
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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