A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975451



Internal ID18610659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11267201..11310612hg38UCSC Ensembl
Innerchr12:11420134..11463546hg19UCSC Ensembl
Innerchr12:11311401..11354813hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3843412
hg1943413
hg1843413
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1916483, nssv1916475, nssv1916480, nssv1916477, nssv1916479, nssv1916482, nssv1916484, nssv1916476, nssv1916478, nssv1916481
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPRB3, PRB4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975451
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