A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3197381



Internal ID22347269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:1060898..1061233hg38UCSC Ensembl
chr5:1061013..1061348hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38336
hg19336
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14319929
SamplesNA19239
Known GenesSLC12A7
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3197381
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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