A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14383740



Internal ID22128000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:88331841..88339671hg38UCSC Ensembl
chr16:88365447..88373277hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg387831
hg197831
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225345
Supporting Variants
SamplesHG00512
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14383740
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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