A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv948113



Internal ID18594959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:87068831..87085866hg38UCSC Ensembl
Innerchr10:88828588..88845623hg19UCSC Ensembl
Innerchr10:88818568..88835603hg18UCSC Ensembl
Cytoband10q23.2
Allele length
AssemblyAllele length
hg3817036
hg1917036
hg1817036
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1861833, nssv1861826, nssv1861831, nssv1861827, nssv1861828, nssv1861832, nssv1861829, nssv1861825, nssv1861830, nssv1861824
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGLUD1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv948113
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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