A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17728420



Internal ID152086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:30326946..30327015hg38UCSC Ensembl
chr22:30722935..30723004hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6146401
Supporting Variants
Samples
Known GenesTBC1D10A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17728420
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000624


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