A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14323802



Internal ID22275982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:170040686..170040945hg38UCSC Ensembl
chr5:169467690..169467949hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38260
hg19260
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3525674
Supporting Variants
SamplesNA19239
Known GenesDOCK2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14323802
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