A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1909986



Internal ID17879596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:130295022..130303123hg38UCSC Ensembl
Innerchr11:130164917..130173018hg19UCSC Ensembl
Innerchr11:129670127..129678228hg18UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg388102
hg198102
hg188102
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975998
Supporting Variants
SamplesHGDP01307
Known GenesZBTB44
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)nssv1909986
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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