A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6254762



Internal ID22059372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:141993893..141993893hg38UCSC Ensembl
chr3:141712735..141712735hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17852760
Samples
Known GenesTFDP2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6254762
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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