A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14291221



Internal ID22126553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:3173312..3175787hg38UCSC Ensembl
chr19:3173310..3175785hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg382476
hg192476
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220092
Supporting Variants
SamplesHG00512
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14291221
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