A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14308504



Internal ID22273395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:113486185..113486528hg38UCSC Ensembl
chr3:113205032..113205375hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg38344
hg19344
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3196992
Supporting Variants
SamplesNA19239
Known GenesSPICE1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14308504
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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