A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5975184



Internal ID22750119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:54709298..54709298hg38UCSC Ensembl
chr14:55176016..55176016hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg38536
hg19536
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17375492
Samples
Known GenesSAMD4A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5975184
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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