A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14341227



Internal ID22209151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:38179218..38179704hg38UCSC Ensembl
chr8:38036736..38037222hg19UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg38487
hg19487
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227570
Supporting Variants
SamplesHG00732
Known GenesBAG4
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14341227
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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