A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2397059



Internal ID17743043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:26420161..26423289hg38UCSC Ensembl
Innerchr6:26420389..26423517hg19UCSC Ensembl
Innerchr6:26528368..26531496hg18UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg383129
hg193129
hg183129
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv969358
Supporting Variants
SamplesHGDP00456
Known GenesBTN2A3P
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)nssv2397059
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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