A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14371189



Internal ID22228592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:71848266..71981556hg38UCSC Ensembl
chr14:72314983..72448273hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg38133291
hg19133291
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223518
Supporting Variants
SamplesHG00733
Known GenesRGS6
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14371189
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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