A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14342148



Internal ID22268221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:100706805..100706886hg38UCSC Ensembl
chr8:101719033..101719114hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210433
Supporting Variants
SamplesNA19238
Known GenesPABPC1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14342148
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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