A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv972048



Internal ID18607264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:81551748..81554899hg38UCSC Ensembl
Innerchr11:81262790..81265941hg19UCSC Ensembl
Innerchr11:80940438..80943589hg18UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg383152
hg193152
hg183152
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1898177, nssv1898182, nssv1898179, nssv1898176, nssv1898178, nssv1898184, nssv1898175, nssv1898183, nssv1898181, nssv1898180
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv972048
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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