A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684261



Internal ID107927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:107548894..107563048hg38UCSC Ensembl
chr12:107942671..107956825hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3814155
hg1914155
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5494423
Supporting Variants
Samples
Known GenesBTBD11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684261
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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