A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17017175



Internal ID79110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:125036650..125036698hg38UCSC Ensembl
chr8:126048892..126048940hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5550462
Supporting Variants
Samples
Known GenesKIAA0196
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17017175
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.037477


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