A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1901346



Internal ID17480185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:93729609..93730453hg38UCSC Ensembl
Innerchr11:93462775..93463619hg19UCSC Ensembl
Innerchr11:93102423..93103267hg18UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg38845
hg19845
hg18845
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv972062
Supporting Variants
SamplesHGDP00998
Known GenesKIAA1731
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)nssv1901346
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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