A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983352



Internal ID18618546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:92859792..92861883hg38UCSC Ensembl
Innerchr12:93253568..93255659hg19UCSC Ensembl
Innerchr12:91777699..91779790hg18UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg382092
hg192092
hg182092
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1939810, nssv1939809, nssv1939812, nssv1939807, nssv1939808, nssv1939813, nssv1939814, nssv1939806, nssv1939811, nssv1939815
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesEEA1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983352
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