A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17729859



Internal ID153525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:49656029..49664934hg38UCSC Ensembl
chr22:50049677..50058582hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg388906
hg198906
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6146715
Supporting Variants
Samples
Known GenesC22orf34
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17729859
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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