A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15193582



Internal ID21332473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:108991549..108991549hg38UCSC Ensembl
chr13:109643897..109643897hg19UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3934847
Supporting Variants
SamplesHG002
Known GenesMYO16
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15193582
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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