A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1910088



Internal ID17738714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:130564133..130570723hg38UCSC Ensembl
Innerchr11:130434028..130440618hg19UCSC Ensembl
Innerchr11:129939238..129945828hg18UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg386591
hg196591
hg186591
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975999
Supporting Variants
SamplesHGDP00456
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)nssv1910088
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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