A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960255



Internal ID18595508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:13062012..13066207hg38UCSC Ensembl
Innerchr18:13062011..13066206hg19UCSC Ensembl
Innerchr18:13052011..13056206hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg384196
hg194196
hg184196
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2115974, nssv2115973, nssv2115982, nssv2115980, nssv2115976, nssv2115978, nssv2115975, nssv2115977, nssv2115981, nssv2115979
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCEP192
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960255
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