A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14384857



Internal ID22237273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:48453376..48459204hg38UCSC Ensembl
chr16:48487287..48493115hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg385829
hg195829
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212185
Supporting Variants
SamplesHG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14384857
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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