A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1896433



Internal ID17826417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:77812520..77814983hg38UCSC Ensembl
Innerchr11:77523566..77526029hg19UCSC Ensembl
Innerchr11:77201214..77203677hg18UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg382464
hg192464
hg182464
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975952
Supporting Variants
SamplesHGDP00998
Known GenesRSF1
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)nssv1896433
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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