A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1908427



Internal ID17463438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:123057251..123060217hg38UCSC Ensembl
Innerchr11:122927959..122930925hg19UCSC Ensembl
Innerchr11:122433169..122436135hg18UCSC Ensembl
Cytoband11q24.1
Allele length
AssemblyAllele length
hg382967
hg192967
hg182967
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983069
Supporting Variants
SamplesHGDP00927
Known GenesHSPA8
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)nssv1908427
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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