A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14286384



Internal ID22157543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:35045650..35045719hg38UCSC Ensembl
chr19:35536554..35536623hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220532
Supporting Variants
SamplesHG00514
Known GenesHPN
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14286384
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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