A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946579



Internal ID18593429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:202380952..202411345hg38UCSC Ensembl
Innerchr1:202350080..202380473hg19UCSC Ensembl
Innerchr1:200616703..200647096hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3830394
hg1930394
hg1830394
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1813041, nssv1813036, nssv1813038, nssv1813042, nssv1813037, nssv1813035, nssv1813039, nssv1813040, nssv1813043, nssv1813044
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPPP1R12B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946579
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