A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14342140



Internal ID22142134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:100701824..100703341hg38UCSC Ensembl
chr8:101714052..101715569hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg381518
hg191518
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211007
Supporting Variants
SamplesHG00513
Known GenesMIR7705, PABPC1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14342140
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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