A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983032



Internal ID18271540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:64243929..64247666hg38UCSC Ensembl
Innerchr11:64011401..64015138hg19UCSC Ensembl
Innerchr11:63767977..63771714hg18UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg383738
hg193738
hg183738
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1893579, nssv1893577, nssv1893578, nssv1893574, nssv1893575, nssv1893576, nssv1893573, nssv1894109, nssv1894110, nssv1894108
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFKBP2, PPP1R14B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983032
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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