A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2397353



Internal ID17809238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:26321206..26323352hg38UCSC Ensembl
Innerchr6:26321434..26323580hg19UCSC Ensembl
Innerchr6:26429413..26431559hg18UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg382147
hg192147
hg182147
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv969357
Supporting Variants
SamplesHGDP00778
Known Genes
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)nssv2397353
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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