A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14367476



Internal ID22268663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:27370994..27370994hg38UCSC Ensembl
chr13:27945131..27945131hg19UCSC Ensembl
Cytoband13q12.2
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3551840
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14367476
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer