A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14366352



Internal ID22257940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:110701769..110702017hg38UCSC Ensembl
chr12:111139574..111139822hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38249
hg19249
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3527749
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14366352
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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