A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964610



Internal ID18599847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:24294204..24299584hg38UCSC Ensembl
Innerchr22:24690172..24695552hg19UCSC Ensembl
Innerchr22:23020172..23025552hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg385381
hg195381
hg185381
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2262722, nssv2262716, nssv2262720, nssv2262725, nssv2262719, nssv2262718, nssv2262724, nssv2262717, nssv2262723, nssv2262721
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSPECC1L, SPECC1L-ADORA2A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964610
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