A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684751



Internal ID108417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:117456903..117456954hg38UCSC Ensembl
chr12:117894708..117894759hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5415244
Supporting Variants
Samples
Known GenesKSR2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684751
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002813


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