A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14321441



Internal ID22171902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:3267301..3270350hg38UCSC Ensembl
chr5:3267415..3270464hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg383050
hg193050
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3190506
Supporting Variants
SamplesHG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14321441
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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