A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684858



Internal ID108524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:119604799..119604888hg38UCSC Ensembl
chr12:120042604..120042693hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5508862
Supporting Variants
Samples
Known GenesTMEM233
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684858
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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