A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960458



Internal ID18595709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:28801934..28803662hg38UCSC Ensembl
Innerchr17:27128952..27130680hg19UCSC Ensembl
Innerchr17:24153078..24154806hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg381729
hg191729
hg181729
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2089685, nssv2089684, nssv2089680, nssv2089688, nssv2089681, nssv2089682, nssv2089679, nssv2089683, nssv2089687, nssv2089686
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFAM222B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960458
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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