A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14447842



Internal ID22243381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49325637..49325637hg38UCSC Ensembl
chr20:47942174..47942174hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3546451
Supporting Variants
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14447842
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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