A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2206921



Internal ID17767689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:157378024..157388238hg38UCSC Ensembl
Innerchr2:158234536..158244750hg19UCSC Ensembl
Innerchr2:157942782..157952996hg18UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg3810215
hg1910215
hg1810215
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963737
Supporting Variants
SamplesHGDP00542
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)nssv2206921
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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