A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3947182



Internal ID21367251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:69462259..69462585hg38UCSC Ensembl
chr13:70036391..70036717hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15182412
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3947182
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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