A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2070055



Internal ID17853768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:88110907..88138384hg38UCSC Ensembl
Innerchr16:88144513..88171990hg19UCSC Ensembl
Innerchr16:86702014..86729491hg18UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg3827478
hg1927478
hg1827478
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv978176
Supporting Variants
SamplesHGDP01029
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2070055
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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