A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17685500



Internal ID109166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:131112883..131355680hg38UCSC Ensembl
chr12:131597428..131840225hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38242798
hg19242798
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5503424
Supporting Variants
Samples
Known GenesGPR133, LOC116437, LOC338797
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17685500
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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