A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14459452



Internal ID22212003
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 StatusS
Merged Variantsnsv3294898
Supporting Variants
SamplesHG00733
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)nssv14459452
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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