A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6048843



Internal ID21958078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:142822432..142822432hg38UCSC Ensembl
chr2:143580001..143580001hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg383010
hg193010
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17531191
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6048843
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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