A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14321665



Internal ID22192939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:112749502..112749980hg38UCSC Ensembl
chr5:112085199..112085677hg19UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg38479
hg19479
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3196177
Supporting Variants
SamplesHG00731
Known GenesAPC
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14321665
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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