A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17718845



Internal ID142511
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 StatusS
Merged Variantsnsv5527058
Supporting Variants
Samples
Known GenesSERPINB2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17718845
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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