A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225818



Internal ID22368833
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14390417, nssv14375438, nssv14386931, nssv14390298, nssv14391216, nssv14379476, nssv14383144, nssv14381462, nssv14375917
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesZNRF1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225818
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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