A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17133398



Internal ID21454400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:31509247..31509247hg38UCSC Ensembl
chr5:31509354..31509354hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5631807
Supporting Variants
SamplesHG02011
Known GenesDROSHA
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17133398
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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