A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv982977



Internal ID18618171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:5253033..5255043hg38UCSC Ensembl
Innerchr11:5274263..5276273hg19UCSC Ensembl
Innerchr11:5230839..5232849hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg382011
hg192011
hg182011
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1873645, nssv1873639, nssv1873638, nssv1873646, nssv1873643, nssv1873641, nssv1873637, nssv1873640, nssv1873642, nssv1873644
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesHBG2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv982977
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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