A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1894651



Internal ID17531102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:67989171..68010919hg38UCSC Ensembl
Innerchr11:67756642..67778389hg19UCSC Ensembl
Innerchr11:67513218..67534965hg18UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg3821749
hg1921748
hg1821748
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv983037
Supporting Variants
SamplesHGDP01307
Known GenesALDH3B1, UNC93B1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1894651
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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