A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5518130



Internal ID294527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:57220811..57226477hg38UCSC Ensembl
chr20:55795867..55801533hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg385667
hg195667
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17733287
Samples
Known GenesBMP7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5518130
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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