A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6101309



Internal ID22010542
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 StatusM
Merged Variants
Supporting Variantsnssv17628900
Samples
Known GenesPTPN1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6101309
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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