A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18177279



Internal ID20744319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:63645501..63661900hg38UCSC Ensembl
chr18:61312735..61329134hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg3816400
hg1916400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6533163
Supporting Variants
Samples
Known GenesSERPINB3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18177279
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00062


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