A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv947896



Internal ID18248057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:43183436..43185259hg38UCSC Ensembl
Innerchr10:43678884..43680707hg19UCSC Ensembl
Innerchr10:42998890..43000713hg18UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg381824
hg191824
hg181824
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1843223, nssv1843217, nssv1843219, nssv1843220, nssv1843218, nssv1843216, nssv1843215, nssv1843224, nssv1843222, nssv1843221
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCSGALNACT2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv947896
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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