A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14344246



Internal ID22253449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:122591540..122591710hg38UCSC Ensembl
chr8:123603779..123603949hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38171
hg19171
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222939
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14344246
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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