A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv948059



Internal ID18594905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:70421518..70424039hg38UCSC Ensembl
Innerchr10:72181274..72183795hg19UCSC Ensembl
Innerchr10:71851280..71853801hg18UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg382522
hg192522
hg182522
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1855135, nssv1855130, nssv1855132, nssv1855131, nssv1855128, nssv1855126, nssv1855134, nssv1855127, nssv1855133, nssv1855129
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesEIF4EBP2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv948059
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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