A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2398268



Internal ID17398131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:26405649..26407812hg38UCSC Ensembl
Innerchr6:26405877..26408040hg19UCSC Ensembl
Innerchr6:26513856..26516019hg18UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg382164
hg192164
hg182164
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981113
Supporting Variants
SamplesHGDP00521
Known GenesBTN3A1
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)nssv2398268
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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