A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973060



Internal ID18608275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:45173420..45174632hg38UCSC Ensembl
Innerchr12:45567203..45568415hg19UCSC Ensembl
Innerchr12:43853470..43854682hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg381213
hg191213
hg181213
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1928270, nssv1928274, nssv1928272, nssv1928266, nssv1928267, nssv1928273, nssv1928268, nssv1928271, nssv1928269, nssv1928275
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPLEKHA8P1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv973060
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