A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2413520



Internal ID17852125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:73517348..73519647hg38UCSC Ensembl
Innerchr6:74227071..74229370hg19UCSC Ensembl
Innerchr6:74283792..74286091hg18UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg382300
hg192300
hg182300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981157
Supporting Variants
SamplesHGDP01029
Known GenesEEF1A1
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)nssv2413520
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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