A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5967937



Internal ID22742872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:54481131..54481131hg38UCSC Ensembl
chr20:53097670..53097670hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg38186
hg19186
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17407951
Samples
Known GenesDOK5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5967937
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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