A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14294126



Internal ID22222665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:166677459..166677459hg38UCSC Ensembl
chr1:166646696..166646696hg19UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3561588
Supporting Variants
SamplesHG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14294126
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer