A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1902599



Internal ID17449893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:114407836..114408448hg38UCSC Ensembl
Innerchr11:114278558..114279170hg19UCSC Ensembl
Innerchr11:113783768..113784380hg18UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg38613
hg19613
hg18613
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983063
Supporting Variants
SamplesHGDP00778
Known GenesRBM7
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)nssv1902599
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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