A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14324996



Internal ID22261021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:133858848..133858848hg38UCSC Ensembl
chr5:133194539..133194539hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3563525
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14324996
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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