A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14391036



Internal ID22270388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:30364352..30364850hg38UCSC Ensembl
chr17:28691370..28691868hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38499
hg19499
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210956
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14391036
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