A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2167045



Internal ID17507240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:26190851..26191549hg38UCSC Ensembl
Innerchr2:26413720..26414418hg19UCSC Ensembl
Innerchr2:26267224..26267922hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38699
hg19699
hg18699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961390
Supporting Variants
SamplesHGDP01029
Known GenesHADHA
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)nssv2167045
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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