A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960427



Internal ID18595678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:17583841..17585696hg38UCSC Ensembl
Innerchr17:17487155..17489010hg19UCSC Ensembl
Innerchr17:17427880..17429735hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg381856
hg191856
hg181856
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2080703, nssv2080699, nssv2080704, nssv2080698, nssv2080705, nssv2080707, nssv2080702, nssv2080700, nssv2080706, nssv2080701
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPEMT
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960427
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