A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14396697



Internal ID22304245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:51211007..51211007hg38UCSC Ensembl
chr20:49827544..49827544hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3543402
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)nssv14396697
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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