A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3207053



Internal ID22355508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:57493441..57493777hg38UCSC Ensembl
chr3:57479168..57479504hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg38337
hg19337
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14305898
SamplesNA19238
Known GenesDNAH12
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3207053
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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