A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15183046



Internal ID21321842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:35864267..35864585hg38UCSC Ensembl
chr13:36438404..36438722hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3953447
Supporting Variants
SamplesHG002
Known GenesDCLK1, MIR548F5
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15183046
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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