A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14324593



Internal ID22316568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:175213432..175213432hg38UCSC Ensembl
chr5:174640435..174640435hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3563854
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14324593
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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