A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14371230



Internal ID22303766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:73672467..73672884hg38UCSC Ensembl
chr14:74139170..74139587hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38418
hg19418
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226663
Supporting Variants
SamplesNA19240
Known GenesDNAL1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14371230
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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