A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14309252



Internal ID22166954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:119478836..119479205hg38UCSC Ensembl
chr3:119197683..119198052hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg38370
hg19370
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3198718
Supporting Variants
SamplesHG00514
Known GenesPOGLUT1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14309252
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer