A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204362



Internal ID22353226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:16624289..16624342hg38UCSC Ensembl
chr5:16624398..16624451hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7214n152
Supporting Variantsnssv14320361, nssv14320362, nssv14320360, nssv14320359, nssv14320364, nssv14320363
SamplesHG00512, HG00731, HG00732, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204362
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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