A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv972812



Internal ID18608028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:138131866..138198294hg38UCSC Ensembl
Innerchr9:141026318..141088744hg19UCSC Ensembl
Innerchr9:140146139..140208565hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3866429
hg1962427
hg1862427
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2569782, nssv2569783, nssv2569787, nssv2569786, nssv2569791, nssv2569784, nssv2569790, nssv2569788, nssv2569789, nssv2569785
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTUBBP5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv972812
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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