A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14341228



Internal ID22195264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:38206011..38206331hg38UCSC Ensembl
chr8:38063529..38063849hg19UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212589
Supporting Variants
SamplesHG00731
Known GenesBAG4
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14341228
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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