A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5458792



Internal ID236813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:94832051..94832130hg38UCSC Ensembl
chr4:95753202..95753281hg19UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16951892
Samples
Known GenesBMPR1B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5458792
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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