A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv982991



Internal ID18618185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:18403305..18409759hg38UCSC Ensembl
Innerchr11:18424852..18431306hg19UCSC Ensembl
Innerchr11:18381428..18387882hg18UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg386455
hg196455
hg186455
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1877464, nssv1877471, nssv1877469, nssv1877467, nssv1877468, nssv1877462, nssv1877470, nssv1877466, nssv1877465, nssv1877463
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLDHA
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv982991
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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