A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv982986



Internal ID18271494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:14673074..14674420hg38UCSC Ensembl
Innerchr11:14694620..14695966hg19UCSC Ensembl
Innerchr11:14651196..14652542hg18UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg381347
hg191347
hg181347
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1878720, nssv1878723, nssv1878714, nssv1878716, nssv1878717, nssv1878719, nssv1878715, nssv1878722, nssv1878718, nssv1878721
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesPDE3B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv982986
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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