A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14322459



Internal ID22192024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:117214474..117214474hg38UCSC Ensembl
chr5:116550170..116550170hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3563637
Supporting Variants
SamplesHG00731
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14322459
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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