A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983043



Internal ID18618237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:73675060..73678060hg38UCSC Ensembl
Innerchr11:73386105..73389105hg19UCSC Ensembl
Innerchr11:73063753..73066753hg18UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg383001
hg193001
hg183001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1895983, nssv1895986, nssv1895985, nssv1895989, nssv1895991, nssv1895988, nssv1895984, nssv1895987, nssv1895990, nssv1895992
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRAB6A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983043
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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