A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5954311



Internal ID22729556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:107980664..107980664hg38UCSC Ensembl
chr5:107316365..107316365hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg38221
hg19221
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17410569
Samples
Known GenesFBXL17
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5954311
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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