A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5526627



Internal ID302752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:46126088..46127433hg38UCSC Ensembl
chr18:43706054..43707399hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg381346
hg191346
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17717882
Samples
Known GenesHAUS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5526627
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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