A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517451



Internal ID6014943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:3599655..3661815hg19UCSC Ensembl
Innerchr16:3539656..3601816hg18UCSC Ensembl
Innerchr16:3539656..3601816hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv683165, nssv682653, nssv691419, nssv688654, nssv658713, nssv692962, nssv652117, nssv691831, nssv652280, nssv691500, nssv651815, nssv665204, nssv662405, nssv660432, nssv691306, nssv677728, nssv682877, nssv678430, nssv677811, nssv657687, nssv687634, nssv675085, nssv666872, nssv678271, nssv667425, nssv666921, nssv679617, nssv666614, nssv655687, nssv673338, nssv692835, nssv663104, nssv686618, nssv658323, nssv685485, nssv669930, nssv684752, nssv661902, nssv685534, nssv661957, nssv668724, nssv660828, nssv655260, nssv693407, nssv670473, nssv653975, nssv676852, nssv678595, nssv666645, nssv672174, nssv663279, nssv664564, nssv703490, nssv656780, nssv679896, nssv652929
Samples
Known GenesNLRC3, SLX4
Method
AnalysisMerged-level CNV regions
PlatformIllumina HumanHap550 Genotyping BeadChip v3
Comments
ReferenceShaikh et al 2009
Pubmed ID19592680
Accession Number(s)nsv517451
Frequency
Sample Size2026
Observed Gain0
Observed Loss56
Observed Complex0
Frequencyn/a


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