A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3946823



Internal ID21366892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:27282548..27282548hg38UCSC Ensembl
chr3:27324039..27324039hg19UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15188343
SamplesHG002
Known GenesNEK10
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3946823
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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