A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2277524



Internal ID17833757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:33836446..33860330hg38UCSC Ensembl
Innerchr3:33877938..33901822hg19UCSC Ensembl
Innerchr3:33852942..33876826hg18UCSC Ensembl
Cytoband3p22.3
Allele length
AssemblyAllele length
hg3823885
hg1923885
hg1823885
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979819
Supporting Variants
SamplesHGDP00998
Known GenesPDCD6IP
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)nssv2277524
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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