A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2216121



Internal ID17513546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:197502695..197504594hg38UCSC Ensembl
Innerchr2:198367419..198369318hg19UCSC Ensembl
Innerchr2:198075664..198077563hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg381900
hg191900
hg181900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961921
Supporting Variants
SamplesHGDP01284
Known GenesHSPE1, 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)nssv2216121
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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