A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv971271



Internal ID18606491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:436685..438531hg38UCSC Ensembl
Innerchr8:386685..388531hg19UCSC Ensembl
Innerchr8:376685..378531hg18UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg381847
hg191847
hg181847
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2491499, nssv2491500, nssv2491493, nssv2491501, nssv2491497, nssv2491502, nssv2491496, nssv2491495, nssv2491498, nssv2491494
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFBXO25
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv971271
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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