A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16987550



Internal ID59140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:120950894..121351000hg38UCSC Ensembl
chr6:121272040..121672146hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38400107
hg19400107
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5459787
Supporting Variants
Samples
Known GenesTBC1D32
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16987550
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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