A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1904463



Internal ID17481797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:110229440..110231900hg38UCSC Ensembl
Innerchr11:110100165..110102625hg19UCSC Ensembl
Innerchr11:109605375..109607835hg18UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg382461
hg192461
hg182461
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983060
Supporting Variants
SamplesHGDP00998
Known GenesRDX
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)nssv1904463
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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