A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv948136



Internal ID18594982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:92114843..92116895hg38UCSC Ensembl
Innerchr10:93874600..93876652hg19UCSC Ensembl
Innerchr10:93864580..93866632hg18UCSC Ensembl
Cytoband10q23.32
Allele length
AssemblyAllele length
hg382053
hg192053
hg182053
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1863854, nssv1863858, nssv1863863, nssv1863861, nssv1863862, nssv1863856, nssv1863857, nssv1863855, nssv1863860, nssv1863859
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)nsv948136
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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