A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5977384



Internal ID22752319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:54724012..54724012hg38UCSC Ensembl
chr14:55190730..55190730hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg38209
hg19209
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17382363
Samples
Known GenesSAMD4A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5977384
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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