A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14399303



Internal ID22314370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:32855876..32855876hg38UCSC Ensembl
chr5:32855982..32855982hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3537796
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14399303
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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