A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14325765



Internal ID22142039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:139378301..139383300hg38UCSC Ensembl
chr5:138713990..138718989hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg385000
hg195000
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3194192
Supporting Variants
SamplesHG00513
Known GenesSLC23A1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14325765
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