A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2171745



Internal ID17387186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:55234840..55236211hg38UCSC Ensembl
Innerchr2:55461976..55463347hg19UCSC Ensembl
Innerchr2:55315480..55316851hg18UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg381372
hg191372
hg181372
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961777
Supporting Variants
SamplesHGDP00456
Known GenesMIR4426, RPS27A
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)nssv2171745
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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