A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17628900



Internal ID21820947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:50545864..50545864hg38UCSC Ensembl
chr20:49162401..49162401hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg382826
hg192826
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6101309
Supporting Variants
Samples
Known GenesPTPN1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17628900
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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