A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2187285



Internal ID17436222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:95589508..95663812hg38UCSC Ensembl
Innerchr2:96255256..96329560hg19UCSC Ensembl
Innerchr2:95618983..95693287hg18UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg3874305
hg1974305
hg1874305
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961830
Supporting Variants
SamplesHGDP00665
Known GenesTRIM43
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)nssv2187285
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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