A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14305356



Internal ID22165289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:13154460..13154460hg38UCSC Ensembl
chr3:13195960..13195960hg19UCSC Ensembl
Cytoband3p25.2
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3563220
Supporting Variants
SamplesHG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14305356
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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