A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975982



Internal ID18264503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:114697963..114698575hg38UCSC Ensembl
Innerchr11:114568685..114569297hg19UCSC Ensembl
Innerchr11:114073895..114074507hg18UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg38613
hg19613
hg18613
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1903785, nssv1903777, nssv1903786, nssv1903781, nssv1903780, nssv1903783, nssv1903784, nssv1903779, nssv1903778, nssv1903782
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesNXPE2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975982
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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