A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2166048



Internal ID17835819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:9017765..9018401hg38UCSC Ensembl
Innerchr2:9157894..9158530hg19UCSC Ensembl
Innerchr2:9075345..9075981hg18UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38637
hg19637
hg18637
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961378
Supporting Variants
SamplesHGDP00998
Known Genes
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)nssv2166048
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