A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2277048



Internal ID17799607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:33076461..33079559hg38UCSC Ensembl
Innerchr3:33117953..33121051hg19UCSC Ensembl
Innerchr3:33092957..33096055hg18UCSC Ensembl
Cytoband3p22.3
Allele length
AssemblyAllele length
hg383099
hg193099
hg183099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963308
Supporting Variants
SamplesHGDP00778
Known GenesGLB1
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)nssv2277048
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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