A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975999



Internal ID18611206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:130564133..130570723hg38UCSC Ensembl
Innerchr11:130434028..130440618hg19UCSC Ensembl
Innerchr11:129939238..129945828hg18UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg386591
hg196591
hg186591
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1910084, nssv1910089, nssv1910083, nssv1910090, nssv1910086, nssv1910091, nssv1910092, nssv1910088, nssv1910085, nssv1910087
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975999
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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