A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv947947



Internal ID18248107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46266635..46283677hg38UCSC Ensembl
Innerchr10:47637871..47654913hg19UCSC Ensembl
Innerchr10:47107877..47124919hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3817043
hg1917043
hg1817043
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1853890, nssv1853892, nssv1853895, nssv1853889, nssv1853897, nssv1853893, nssv1853898, nssv1853891, nssv1853894, nssv1853896
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesANTXRLP1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv947947
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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