A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2398082



Internal ID17463735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:26374649..26378393hg38UCSC Ensembl
Innerchr6:26374877..26378621hg19UCSC Ensembl
Innerchr6:26482856..26486600hg18UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg383745
hg193745
hg183745
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970086
Supporting Variants
SamplesHGDP00927
Known GenesBTN3A2
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)nssv2398082
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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