A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14286997



Internal ID22200730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54959197..54960664hg38UCSC Ensembl
chr19:55470565..55472032hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg381468
hg191468
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224466
Supporting Variants
SamplesHG00732
Known GenesRNU6-35P, RNU6-64P
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14286997
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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