A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv830036



Internal ID6155760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:111406502..111595729hg19UCSC Ensembl
Outerchr4:111625951..111815178hg18UCSC Ensembl
Outerchr4:111764106..111953333hg17UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1443908
Samples
Known GenesENPEP, PITX2
Method
Analysis
PlatformSMRT Whole Genome Tile Path BAC CGH Array
Comments
ReferenceWong_et_al_2007
Pubmed ID17160897
Accession Number(s)nsv830036
Frequency
Sample Size95
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer