A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2407497



Internal ID17813129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:44088125..44092458hg38UCSC Ensembl
Innerchr6:44055862..44060195hg19UCSC Ensembl
Innerchr6:44163840..44168173hg18UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg384334
hg194334
hg184334
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981140
Supporting Variants
SamplesHGDP00927
Known Genes
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)nssv2407497
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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