A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3555060



Internal ID22423909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:53200154..53200154hg38UCSC Ensembl
chr20:51816693..51816693hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg381126
hg191126
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14448971
SamplesHG00733
Known GenesTSHZ2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3555060
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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