A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2293504



Internal ID17753174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:121847717..121849075hg38UCSC Ensembl
Innerchr3:121566564..121567922hg19UCSC Ensembl
Innerchr3:123049254..123050612hg18UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg381359
hg191359
hg181359
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967053
Supporting Variants
SamplesHGDP00521
Known GenesEAF2
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)nssv2293504
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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