A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17851016



Internal ID22034659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:169484989..169484989hg38UCSC Ensembl
chr2:170341499..170341499hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6243433
Supporting Variants
Samples
Known GenesBBS5
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17851016
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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