A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14364749



Internal ID22145160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49366546..49366546hg38UCSC Ensembl
chr12:49760329..49760329hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3560076
Supporting Variants
SamplesHG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14364749
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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