A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5952813



Internal ID22728117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:168236983..168236983hg38UCSC Ensembl
chr5:167663988..167663988hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38181
hg19181
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17424581
Samples
Known GenesTENM2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5952813
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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