A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2219413



Internal ID17435452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:206161279..206162903hg38UCSC Ensembl
Innerchr2:207026003..207027627hg19UCSC Ensembl
Innerchr2:206734248..206735872hg18UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg381625
hg191625
hg181625
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963768
Supporting Variants
SamplesHGDP00665
Known GenesEEF1B2, SNORA41, SNORD51
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)nssv2219413
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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