A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960116



Internal ID18595369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45486976..45492315hg38UCSC Ensembl
Innerchr17:43564342..43569681hg19UCSC Ensembl
Innerchr17:40920125..40925464hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg385340
hg195340
hg185340
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2097881, nssv2097889, nssv2097885, nssv2097890, nssv2097883, nssv2097888, nssv2097884, nssv2097886, nssv2097887, nssv2097882
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPLEKHM1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960116
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