A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17134743



Internal ID21512421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:10984536..10984536hg38UCSC Ensembl
chr5:10984648..10984648hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5630054
Supporting Variants
SamplesNA24385
Known GenesCTNND2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17134743
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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