A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2200958



Internal ID17520710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:117830670..117831264hg38UCSC Ensembl
Innerchr2:118588246..118588840hg19UCSC Ensembl
Innerchr2:118304716..118305310hg18UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38595
hg19595
hg18595
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961875
Supporting Variants
SamplesHGDP01284
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)nssv2200958
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