A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17685110



Internal ID108776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124845139..124847004hg38UCSC Ensembl
chr12:125329685..125331550hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381866
hg191866
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5504983
Supporting Variants
Samples
Known GenesSCARB1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17685110
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000937


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