A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14310067



Internal ID22120717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:179962014..179962014hg38UCSC Ensembl
chr3:179679802..179679802hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3563255
Supporting Variants
SamplesHG00512
Known GenesPEX5L
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14310067
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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