A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961450



Internal ID18596696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:95416330..95487144hg38UCSC Ensembl
Innerchr2:96082078..96152892hg19UCSC Ensembl
Innerchr2:95445805..95516619hg18UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg3870815
hg1970815
hg1870815
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2188611, nssv2188608, nssv2188617, nssv2188614, nssv2188610, nssv2188616, nssv2188612, nssv2188613, nssv2188609, nssv2188615
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTRIM43B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961450
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