A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2209691



Internal ID17382072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:166275887..166277249hg38UCSC Ensembl
Innerchr2:167132397..167133759hg19UCSC Ensembl
Innerchr2:166840643..166842005hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg381363
hg191363
hg181363
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961906
Supporting Variants
SamplesHGDP00456
Known GenesSCN9A
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)nssv2209691
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