A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17132123



Internal ID21482980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:40309482..40309482hg38UCSC Ensembl
chr5:40309584..40309584hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38167
hg19167
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5637417
Supporting Variants
SamplesHG03732
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17132123
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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