A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975978



Internal ID18611185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:111671097..111672945hg38UCSC Ensembl
Innerchr11:111541821..111543669hg19UCSC Ensembl
Innerchr11:111047031..111048879hg18UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg381849
hg191849
hg181849
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1904508, nssv1904506, nssv1904509, nssv1904505, nssv1904504, nssv1904501, nssv1904502, nssv1904507, nssv1904500, nssv1904503
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSIK2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975978
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer