A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2399465



Internal ID17492493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:27892936..27894028hg38UCSC Ensembl
Innerchr6:27860714..27861806hg19UCSC Ensembl
Innerchr6:27968693..27969785hg18UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg381093
hg191093
hg181093
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981121
Supporting Variants
SamplesHGDP00998
Known GenesHIST1H2AM, HIST1H2BO
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)nssv2399465
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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