A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14342784



Internal ID22182414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:94049305..94049305hg38UCSC Ensembl
chr8:95061533..95061533hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3565324
Supporting Variants
SamplesHG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14342784
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