A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14342402



Internal ID22283820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:68217891..68217891hg38UCSC Ensembl
chr8:69130126..69130126hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3565632
Supporting Variants
SamplesNA19239
Known GenesPREX2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14342402
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