A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14370948



Internal ID22228345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:34962501..35000399hg38UCSC Ensembl
chr14:35431707..35469605hg19UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg3837899
hg1937899
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211325
Supporting Variants
SamplesHG00733
Known GenesSRP54
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14370948
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