A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14321252



Internal ID22209683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:32537444..32543395hg38UCSC Ensembl
chr5:32537550..32543501hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg385952
hg195952
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207670
Supporting Variants
SamplesHG00732
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14321252
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