A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3191084



Internal ID22341844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:78460728..78460801hg38UCSC Ensembl
chr5:77756551..77756624hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14321896
SamplesNA19240
Known GenesSCAMP1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3191084
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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