A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17852134



Internal ID22035777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:47007820..47007820hg38UCSC Ensembl
chr3:47049310..47049310hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6253965
Supporting Variants
Samples
Known GenesNBEAL2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17852134
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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