A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14285998



Internal ID22121955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:11389734..11390086hg38UCSC Ensembl
chr19:11500410..11500762hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38353
hg19353
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3541272
Supporting Variants
SamplesHG00512
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14285998
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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