A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684952



Internal ID108618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121030915..121031912hg38UCSC Ensembl
chr12:121468718..121469715hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38998
hg19998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5509398
Supporting Variants
Samples
Known GenesOASL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684952
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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