A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14311026



Internal ID22280689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:190007827..190007966hg38UCSC Ensembl
chr3:189725616..189725755hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg38140
hg19140
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3196538
Supporting Variants
SamplesNA19239
Known GenesLEPREL1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14311026
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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