A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14343191



Internal ID22268653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:73964094..73964264hg38UCSC Ensembl
chr8:74876329..74876499hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg38171
hg19171
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217620
Supporting Variants
SamplesNA19238
Known GenesTCEB1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14343191
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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