A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17848529



Internal ID22032172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:49839533..49839533hg38UCSC Ensembl
chr17:47916895..47916895hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6250842
Supporting Variants
Samples
Known GenesTAC4
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17848529
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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