A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17724536



Internal ID148202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:42825685..42825736hg38UCSC Ensembl
chr17:40977702..40977753hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5421167
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17724536
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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