A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14303752



Internal ID22265001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:3790607..3790607hg38UCSC Ensembl
chr3:3832291..3832291hg19UCSC Ensembl
Cytoband3p26.2
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3563114
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14303752
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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