A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1902467



Internal ID17829365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:102230845..102231942hg38UCSC Ensembl
Innerchr11:102101576..102102673hg19UCSC Ensembl
Innerchr11:101606786..101607883hg18UCSC Ensembl
Cytoband11q22.2
Allele length
AssemblyAllele length
hg381098
hg191098
hg181098
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975221
Supporting Variants
SamplesHGDP00998
Known GenesYAP1
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)nssv1902467
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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