A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5513011



Internal ID289546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:51348686..51348848hg38UCSC Ensembl
chr13:51922822..51922984hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38163
hg19163
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17687750
Samples
Known GenesSERPINE3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5513011
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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