A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2176599



Internal ID17441994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:70263316..70273124hg38UCSC Ensembl
Innerchr2:70490448..70500256hg19UCSC Ensembl
Innerchr2:70343952..70353760hg18UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg389809
hg199809
hg189809
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961415
Supporting Variants
SamplesHGDP00665
Known GenesPCYOX1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2176599
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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