A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14408845



Internal ID22323004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:43652857..43653476hg38UCSC Ensembl
chr20:42281497..42282116hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38620
hg19620
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211743
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)nssv14408845
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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