A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17130471



Internal ID21509473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:40101278..40101278hg38UCSC Ensembl
chr5:40101380..40101380hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38232
hg19232
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5635416
Supporting Variants
SamplesNA20847
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17130471
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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