A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975942



Internal ID18264463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:66003499..66004337hg38UCSC Ensembl
Innerchr11:65770970..65771808hg19UCSC Ensembl
Innerchr11:65527546..65528384hg18UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg38839
hg19839
hg18839
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1893995, nssv1893989, nssv1893993, nssv1893992, nssv1893994, nssv1893996, nssv1893988, nssv1893987, nssv1893991, nssv1893990
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesBANF1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975942
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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