A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5527058



Internal ID303164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:63892877..63896220hg38UCSC Ensembl
chr18:61560111..61563454hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg383344
hg193344
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17718845
Samples
Known GenesSERPINB2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5527058
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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