A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14372700



Internal ID22277602
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
SamplesNA19239
Known GenesCOTL1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14372700
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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