A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211100



Internal ID22358771
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14371976, nssv14371969, nssv14371977, nssv14371972, nssv14371971, nssv14371974, nssv14371970, nssv14371973, nssv14371975
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesFLVCR2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211100
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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