A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14291502



Internal ID22121765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:45214544..45215099hg38UCSC Ensembl
chr19:45717802..45718357hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38556
hg19556
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220050
Supporting Variants
SamplesHG00512
Known GenesEXOC3L2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14291502
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