A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14310575



Internal ID22167475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:170241752..170242512hg38UCSC Ensembl
chr3:169959540..169960300hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg38761
hg19761
Variant TypeOTHER sequence alteration
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3558552
Supporting Variants
SamplesHG00514
Known GenesPRKCI
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14310575
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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