A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1906367



Internal ID17868578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:118827987..118834543hg38UCSC Ensembl
Innerchr11:118698696..118705252hg19UCSC Ensembl
Innerchr11:118203906..118210462hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg386557
hg196557
hg186557
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv972079
Supporting Variants
SamplesHGDP01284
Known Genes
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)nssv1906367
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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