A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960503



Internal ID18249068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:49423430..49424732hg38UCSC Ensembl
Innerchr17:47500792..47502094hg19UCSC Ensembl
Innerchr17:44855791..44857093hg18UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg381303
hg191303
hg181303
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2102299, nssv2102292, nssv2102294, nssv2102297, nssv2102300, nssv2102296, nssv2102298, nssv2102291, nssv2102293, nssv2102295
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)nsv960503
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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