A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14306492



Internal ID22188217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:25054266..25058521hg38UCSC Ensembl
chr3:25095757..25100012hg19UCSC Ensembl
Cytoband3p24.2
Allele length
AssemblyAllele length
hg384256
hg194256
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3208434
Supporting Variants
SamplesHG00731
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14306492
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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