A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17025853



Internal ID84971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:96286942..96286993hg38UCSC Ensembl
chr9:99049224..99049275hg19UCSC Ensembl
Cytoband9q22.32
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5411520
Supporting Variants
Samples
Known GenesHSD17B3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17025853
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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