A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1902216



Internal ID17449031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:94997804..94998804hg38UCSC Ensembl
Innerchr11:94730968..94731968hg19UCSC Ensembl
Innerchr11:94370616..94371616hg18UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg381001
hg191001
hg181001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975972
Supporting Variants
SamplesHGDP00778
Known GenesKDM4D
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)nssv1902216
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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