A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14380748



Internal ID22234389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30807383..30815336hg38UCSC Ensembl
chr16:30818704..30826657hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg387954
hg197954
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226255
Supporting Variants
SamplesHG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14380748
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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