A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979633



Internal ID18268148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:19254548..19271115hg38UCSC Ensembl
Innerchr22:19242071..19258638hg19UCSC Ensembl
Innerchr22:17622071..17638638hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3816568
hg1916568
hg1816568
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2255238, nssv2255236, nssv2255241, nssv2255240, nssv2255233, nssv2255232, nssv2255239, nssv2255234, nssv2255235, nssv2255237
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesCLTCL1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979633
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