A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2218845



Internal ID17888182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:208206849..208208928hg38UCSC Ensembl
Innerchr2:209071573..209073652hg19UCSC Ensembl
Innerchr2:208779818..208781897hg18UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg382080
hg192080
hg182080
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963770
Supporting Variants
SamplesHGDP01307
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)nssv2218845
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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