A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3528187



Internal ID22397572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:76392885..76394807hg38UCSC Ensembl
chr18:74104841..74106763hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg381923
hg191923
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3933n152
Supporting Variantsnssv14287238, nssv14287239, nssv14284030, nssv14287237, nssv14287234, nssv14287236, nssv14284029, nssv14287235
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesZNF516
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3528187
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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