A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2222113



Internal ID17755106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:222452181..222454181hg38UCSC Ensembl
Innerchr2:223316900..223318900hg19UCSC Ensembl
Innerchr2:223025144..223027144hg18UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg382001
hg192001
hg182001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979178
Supporting Variants
SamplesHGDP00521
Known GenesSGPP2
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)nssv2222113
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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