A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14372687



Internal ID22124706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:85911187..85911684hg38UCSC Ensembl
chr16:85944793..85945290hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg38498
hg19498
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229718
Supporting Variants
SamplesHG00512
Known GenesIRF8
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14372687
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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