A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17711343



Internal ID135009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:9494386..9498113hg38UCSC Ensembl
chr17:9397703..9401430hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg383728
hg193728
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5528230
Supporting Variants
Samples
Known GenesSTX8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17711343
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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