A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1906749



Internal ID17522706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:125583612..125585567hg38UCSC Ensembl
Innerchr11:125453507..125455462hg19UCSC Ensembl
Innerchr11:124958717..124960672hg18UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg381956
hg191956
hg181956
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983073
Supporting Variants
SamplesHGDP01284
Known GenesEI24
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)nssv1906749
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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