A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2066666



Internal ID17409150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:70366358..70370523hg38UCSC Ensembl
Innerchr16:70400261..70404426hg19UCSC Ensembl
Innerchr16:68957762..68961927hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg384166
hg194166
hg184166
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977995
Supporting Variants
SamplesHGDP00521
Known GenesDDX19A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2066666
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