A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17395339



Internal ID22453209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:208024142..208024142hg38UCSC Ensembl
chr2:208888866..208888866hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5952560
Supporting Variants
Samples
Known GenesPLEKHM3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17395339
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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