A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14381462



Internal ID22234666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:75087314..75088988hg38UCSC Ensembl
chr16:75121212..75122886hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg381675
hg191675
Variant TypeCNV duplication
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225818
Supporting Variants
SamplesHG00733
Known GenesZNRF1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14381462
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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