A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14388423



Internal ID22243304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:11637965..11638056hg38UCSC Ensembl
chr16:11731821..11731912hg19UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221418
Supporting Variants
SamplesHG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14388423
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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