A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2202099



Internal ID17799775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:121407864..121408973hg38UCSC Ensembl
Innerchr2:122165440..122166549hg19UCSC Ensembl
Innerchr2:121881910..121883019hg18UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg381110
hg191110
hg181110
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979112
Supporting Variants
SamplesHGDP00778
Known GenesCLASP1
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)nssv2202099
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