A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14347157



Internal ID22279709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:52643568..52643756hg38UCSC Ensembl
chr10:54403328..54403516hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg38189
hg19189
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3528853
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14347157
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