A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2050325



Internal ID17387846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:18984282..18998867hg38UCSC Ensembl
Innerchr16:18995604..19010189hg19UCSC Ensembl
Innerchr16:18903105..18917690hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3814586
hg1914586
hg1814586
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv984286
Supporting Variants
SamplesHGDP00456
Known GenesTMC7
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)nssv2050325
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