A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14394800



Internal ID22305225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:53834668..53834668hg38UCSC Ensembl
chr20:52451207..52451207hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg381050
hg191050
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3553020
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)nssv14394800
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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