A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14286485



Internal ID22140943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:37563751..37563819hg38UCSC Ensembl
chr19:38054653..38054721hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210512
Supporting Variants
SamplesHG00513
Known GenesZNF540, ZNF571-AS1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14286485
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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