A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14325036



Internal ID22267295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:134831692..134831809hg38UCSC Ensembl
chr5:134167382..134167499hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3206270
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14325036
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