A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17713458



Internal ID137124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46927564..46927615hg38UCSC Ensembl
chr17:45004930..45004981hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5414585
Supporting Variants
Samples
Known GenesGOSR2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17713458
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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