A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14285864



Internal ID22271294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:30141114..30143930hg38UCSC Ensembl
chr19:30632021..30634837hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg382817
hg192817
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222597
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14285864
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