A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14373912



Internal ID22263295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:84616017..84622844hg38UCSC Ensembl
chr16:84649623..84656450hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg386828
hg196828
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215713
Supporting Variants
SamplesNA19238
Known GenesCOTL1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14373912
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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