A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14371147



Internal ID22261697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:70611890..70612015hg38UCSC Ensembl
chr14:71078607..71078732hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg38126
hg19126
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227068
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14371147
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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