A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14291747



Internal ID22159685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:153017242..153017242hg38UCSC Ensembl
chr1:152989718..152989718hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3561288
Supporting Variants
SamplesHG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14291747
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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