A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14343639



Internal ID22268833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:143165651..143171250hg38UCSC Ensembl
chr8:144247068..144252667hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg385600
hg195600
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211936
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14343639
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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