A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14319319



Internal ID22260302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:39793706..39917452hg38UCSC Ensembl
chr5:39793808..39917554hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38123747
hg19123747
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3193747
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14319319
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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