A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14320358



Internal ID22320743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:16590914..16590914hg38UCSC Ensembl
chr5:16591023..16591023hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3563875
Supporting Variants
SamplesNA19240
Known GenesFAM134B
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14320358
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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