A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv948138



Internal ID18594984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:92136898..92138271hg38UCSC Ensembl
Innerchr10:93896655..93898028hg19UCSC Ensembl
Innerchr10:93886635..93888008hg18UCSC Ensembl
Cytoband10q23.32
Allele length
AssemblyAllele length
hg381374
hg191374
hg181374
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1864026, nssv1864027, nssv1864025, nssv1864024, nssv1864028, nssv1864029, nssv1864021, nssv1864023, nssv1864030, nssv1864022
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCPEB3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv948138
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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