A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2201286



Internal ID17781882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:119698622..119700763hg38UCSC Ensembl
Innerchr2:120456198..120458339hg19UCSC Ensembl
Innerchr2:120172668..120174809hg18UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg382142
hg192142
hg182142
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979110
Supporting Variants
SamplesHGDP00665
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)nssv2201286
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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