A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2304220



Internal ID17818168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:169482754..169484402hg38UCSC Ensembl
Innerchr3:169200542..169202190hg19UCSC Ensembl
Innerchr3:170683236..170684884hg18UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg381649
hg191649
hg181649
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967088
Supporting Variants
SamplesHGDP00927
Known GenesMECOM
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)nssv2304220
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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