A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975943



Internal ID18264464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:66639765..66640265hg38UCSC Ensembl
Innerchr11:66407236..66407736hg19UCSC Ensembl
Innerchr11:66163812..66164312hg18UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1892783, nssv1892776, nssv1892778, nssv1892779, nssv1892784, nssv1892782, nssv1892780, nssv1892777, nssv1892785, nssv1892781
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRBM14-RBM4, RBM4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975943
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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