A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17016745



Internal ID78818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:109970708..109970708hg38UCSC Ensembl
chr8:110982937..110982937hg19UCSC Ensembl
Cytoband8q23.2
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5549980
Supporting Variants
Samples
Known GenesKCNV1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17016745
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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