A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14297587



Internal ID22121943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:19248672..19251476hg38UCSC Ensembl
chr20:19229316..19232120hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg382805
hg192805
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224249
Supporting Variants
SamplesHG00512
Known GenesLOC100130264, SLC24A3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14297587
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