A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2216025



Internal ID17381252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:197496311..197501196hg38UCSC Ensembl
Innerchr2:198361035..198365920hg19UCSC Ensembl
Innerchr2:198069280..198074165hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg384886
hg194886
hg184886
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979161
Supporting Variants
SamplesHGDP00456
Known GenesHSPD1, HSPE1, HSPE1-MOB4
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)nssv2216025
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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