A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3294898



Internal ID22388341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:57190357..57190429hg38UCSC Ensembl
chr20:55765413..55765485hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5320n152
Supporting Variantsnssv14459452, nssv14408487, nssv14433927
SamplesNA19240, HG00733, HG00514
Known GenesBMP7
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3294898
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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