A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5649309



Internal ID21597614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:22818240..22818240hg38UCSC Ensembl
chr14:23287449..23287449hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38338
hg19338
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17083198
SamplesNA19239
Known GenesSLC7A7
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5649309
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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