A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14399417



Internal ID22319353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:126159292..126159292hg38UCSC Ensembl
chr5:125494985..125494985hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg381030
hg191030
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3539403
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)nssv14399417
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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