A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2042764



Internal ID17501024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:10929005..10929505hg38UCSC Ensembl
Innerchr16:11022862..11023362hg19UCSC Ensembl
Innerchr16:10930363..10930863hg18UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv977902
Supporting Variants
SamplesHGDP01029
Known GenesDEXI
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2042764
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