A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2301063



Internal ID17802907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:149494920..149498765hg38UCSC Ensembl
Innerchr3:149212707..149216552hg19UCSC Ensembl
Innerchr3:150695397..150699242hg18UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg383846
hg193846
hg183846
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979887
Supporting Variants
SamplesHGDP00778
Known GenesTM4SF4
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)nssv2301063
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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