A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14340297



Internal ID22279894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:20287079..20287079hg38UCSC Ensembl
chr8:20144590..20144590hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3565172
Supporting Variants
SamplesNA19239
Known GenesLZTS1-AS1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14340297
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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