A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2391394



Internal ID17492731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:3154696..3158027hg38UCSC Ensembl
Innerchr6:3154930..3158261hg19UCSC Ensembl
Innerchr6:3099929..3103260hg18UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg383332
hg193332
hg183332
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965675
Supporting Variants
SamplesHGDP00998
Known GenesTUBB2A
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)nssv2391394
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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