A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14341540



Internal ID22209455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:57906051..57906735hg38UCSC Ensembl
chr8:58818610..58819294hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38685
hg19685
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228241
Supporting Variants
SamplesHG00732
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14341540
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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