A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14367420



Internal ID22204474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:25609534..25609534hg38UCSC Ensembl
chr13:26183672..26183672hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3560023
Supporting Variants
SamplesHG00732
Known GenesATP8A2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14367420
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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