A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5981527



Internal ID21890870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:15433414..15486465hg38UCSC Ensembl
chr1:15759910..15812960hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3853052
hg1953051
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17519015
Samples
Known GenesCELA2A, CELA2B, CTRC
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5981527
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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