A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3549995



Internal ID22418930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:53835292..53835292hg38UCSC Ensembl
chr20:52451831..52451831hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg381396
hg191396
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14448979
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)nsv3549995
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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