A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973085



Internal ID18261614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:64867514..64870263hg38UCSC Ensembl
Innerchr12:65261294..65264043hg19UCSC Ensembl
Innerchr12:63547561..63550310hg18UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg382750
hg192750
hg182750
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1936204, nssv1936199, nssv1936201, nssv1936206, nssv1936198, nssv1936197, nssv1936205, nssv1936202, nssv1936200, nssv1936203
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTBC1D30
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv973085
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