A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2289864



Internal ID17885996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:101414352..101415562hg38UCSC Ensembl
Innerchr3:101133196..101134406hg19UCSC Ensembl
Innerchr3:102615886..102617096hg18UCSC Ensembl
Cytoband3q12.3
Allele length
AssemblyAllele length
hg381211
hg191211
hg181211
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967046
Supporting Variants
SamplesHGDP01307
Known GenesSENP7
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)nssv2289864
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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