A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14321317



Internal ID22136217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:87270242..87270636hg38UCSC Ensembl
chr5:86566059..86566453hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38395
hg19395
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3197324
Supporting Variants
SamplesHG00513
Known GenesRASA1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14321317
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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