A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17095479



Internal ID21492379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:54709298..54709298hg38UCSC Ensembl
chr14:55176016..55176016hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg38340
hg19340
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5655979
Supporting Variants
SamplesNA19238
Known GenesSAMD4A
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17095479
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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