A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14364287



Internal ID22144900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:43904757..43904912hg38UCSC Ensembl
chr1:44370429..44370584hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38156
hg19156
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3525258
Supporting Variants
SamplesHG00514
Known GenesST3GAL3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14364287
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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