A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17724746



Internal ID148412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:54902808..54902859hg38UCSC Ensembl
chr17:52980169..52980220hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5415764
Supporting Variants
Samples
Known GenesTOM1L1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17724746
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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