A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17848908



Internal ID22032551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:61407118..61407118hg38UCSC Ensembl
chr17:59484479..59484479hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg38276
hg19276
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6250928
Supporting Variants
Samples
Known GenesTBX2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17848908
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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