A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2200070



Internal ID17386932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:117819845..117824994hg38UCSC Ensembl
Innerchr2:118577421..118582570hg19UCSC Ensembl
Innerchr2:118293891..118299040hg18UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg385150
hg195150
hg185150
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961874
Supporting Variants
SamplesHGDP00456
Known GenesDDX18
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)nssv2200070
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