A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2276662



Internal ID17815322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:32149544..32151850hg38UCSC Ensembl
Innerchr3:32191036..32193342hg19UCSC Ensembl
Innerchr3:32166040..32168346hg18UCSC Ensembl
Cytoband3p22.3
Allele length
AssemblyAllele length
hg382307
hg192307
hg182307
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979814
Supporting Variants
SamplesHGDP00927
Known GenesGPD1L
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)nssv2276662
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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