A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2423698



Internal ID17870301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:134294070..134299873hg38UCSC Ensembl
Innerchr6:134615208..134621011hg19UCSC Ensembl
Innerchr6:134656901..134662704hg18UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg385804
hg195804
hg185804
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981186
Supporting Variants
SamplesHGDP01284
Known GenesSGK1
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)nssv2423698
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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