A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14343162



Internal ID22182654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:73349651..73351250hg38UCSC Ensembl
chr8:74261886..74263485hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg381600
hg191600
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229693
Supporting Variants
SamplesHG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14343162
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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