A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975193



Internal ID18263715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:62559450..62560565hg38UCSC Ensembl
Innerchr11:62326922..62328037hg19UCSC Ensembl
Innerchr11:62083498..62084613hg18UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg381116
hg191116
hg181116
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1891954, nssv1891958, nssv1891961, nssv1891959, nssv1891956, nssv1891955, nssv1891963, nssv1891962, nssv1891957, nssv1891960
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesEEF1G, MIR3654
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975193
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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