A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14305898



Internal ID22258853
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207053
Supporting Variants
SamplesNA19238
Known GenesDNAH12
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14305898
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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