A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976103



Internal ID18611310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:35802103..35803015hg38UCSC Ensembl
Innerchr13:36376240..36377152hg19UCSC Ensembl
Innerchr13:35274240..35275152hg18UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38913
hg19913
hg18913
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1959584, nssv1959582, nssv1959581, nssv1959585, nssv1959583, nssv1959587, nssv1959588, nssv1959580, nssv1959589, nssv1959586
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesDCLK1, MIR548F5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976103
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