A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2280047



Internal ID17484599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:44872532..44874641hg38UCSC Ensembl
Innerchr3:44914024..44916133hg19UCSC Ensembl
Innerchr3:44889028..44891137hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg382110
hg192110
hg182110
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979826
Supporting Variants
SamplesHGDP00998
Known GenesTGM4
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)nssv2280047
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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