A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14285378



Internal ID22157136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:79401669..79402853hg38UCSC Ensembl
chr18:77161669..77162853hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg381185
hg191185
Variant TypeCNV duplication
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216441
Supporting Variants
SamplesHG00514
Known GenesNFATC1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14285378
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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