A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3553297



Internal ID22422181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:64084092..64084092hg38UCSC Ensembl
chr20:62715445..62715445hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg384725
hg194725
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14449559
SamplesHG00733
Known GenesC20orf201, OPRL1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3553297
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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