A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1870393



Internal ID17416365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:131893..180277hg38UCSC Ensembl
Innerchr11:131893..180277hg19UCSC Ensembl
Innerchr11:121893..170277hg18UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3848385
hg1948385
hg1848385
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv982968
Supporting Variants
SamplesHGDP00542
Known GenesLINC01001
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)nssv1870393
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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