A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216441



Internal ID22362433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:79401669..79402853hg38UCSC Ensembl
chr18:77161669..77162853hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg381185
hg191185
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14285378, nssv14285382, nssv14285381, nssv14285376, nssv14285379, nssv14285384, nssv14285377, nssv14285383, nssv14285380
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesNFATC1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216441
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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