A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14380196



Internal ID22174113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:48313365..48313365hg38UCSC Ensembl
chr15:48605562..48605562hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3561031
Supporting Variants
SamplesHG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14380196
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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