A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14291578



Internal ID22312899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:47831930..47832297hg38UCSC Ensembl
chr19:48335187..48335554hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38368
hg19368
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3533035
Supporting Variants
SamplesNA19240
Known GenesCRX
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14291578
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