A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1908517



Internal ID17447083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:123597862..123599405hg38UCSC Ensembl
Innerchr11:123468570..123470113hg19UCSC Ensembl
Innerchr11:122973780..122975323hg18UCSC Ensembl
Cytoband11q24.1
Allele length
AssemblyAllele length
hg381544
hg191544
hg181544
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv972081
Supporting Variants
SamplesHGDP00778
Known GenesGRAMD1B
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)nssv1908517
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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