A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684991



Internal ID108657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121554532..121571772hg38UCSC Ensembl
chr12:121992437..122009677hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3817241
hg1917241
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6143367
Supporting Variants
Samples
Known GenesKDM2B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684991
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000937


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