A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14380892



Internal ID22141236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45870201..45881750hg38UCSC Ensembl
chr17:43947567..43959116hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3811550
hg1911550
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229045
Supporting Variants
SamplesHG00513
Known GenesMAPT-AS1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14380892
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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