A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14321896



Internal ID22315452
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3191084
Supporting Variants
SamplesNA19240
Known GenesSCAMP1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14321896
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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