A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976557



Internal ID18611763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:3467967..3470498hg38UCSC Ensembl
Innerchr12:3577133..3579664hg19UCSC Ensembl
Innerchr12:3447394..3449925hg18UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg382532
hg192532
hg182532
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1909618, nssv1909619, nssv1910412, nssv1909616, nssv1909614, nssv1909615, nssv1909617, nssv1909613, nssv1909612, nssv1910413
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPRMT8
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976557
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