A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14371973



Internal ID22206958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:75626454..75629920hg38UCSC Ensembl
chr14:76092797..76096263hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg383467
hg193467
Variant TypeCNV duplication
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211100
Supporting Variants
SamplesHG00732
Known GenesFLVCR2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14371973
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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