A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14379558



Internal ID22126804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:23583606..23583707hg38UCSC Ensembl
chr16:23594927..23595028hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219639
Supporting Variants
SamplesHG00512
Known GenesNDUFAB1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14379558
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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