A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14390357



Internal ID22254360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:31483688..31484007hg38UCSC Ensembl
chr16:31495009..31495328hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220487
Supporting Variants
SamplesNA19238
Known GenesSLC5A2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14390357
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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