A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3206126



Internal ID22354716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:52991445..52991524hg38UCSC Ensembl
chr20:51607984..51608063hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14396703, nssv14448969
SamplesNA19240, HG00733
Known GenesTSHZ2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3206126
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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