A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975188



Internal ID18263710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:57712848..57726726hg38UCSC Ensembl
Innerchr11:57480320..57494198hg19UCSC Ensembl
Innerchr11:57236896..57250774hg18UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg3813879
hg1913879
hg1813879
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1888821, nssv1888817, nssv1888823, nssv1888820, nssv1888822, nssv1888824, nssv1888825, nssv1888819, nssv1888818, nssv1888816
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTMX2, TMX2-CTNND1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975188
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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