A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15188366



Internal ID21327198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:50839723..50839723hg38UCSC Ensembl
chr3:50877154..50877154hg19UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3932009
Supporting Variants
SamplesHG002
Known GenesDOCK3
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15188366
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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