A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471622



Internal ID6064224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12215264..12431643hg19UCSC Ensembl
Innerchr1:12137851..12354230hg18UCSC Ensembl
Innerchr1:12149530..12365909hg17UCSC Ensembl
Innerchr1:11924810..12112733hg16UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
hg16n/a
Variant TypeCNV Gain+Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv550339, nssv550334, nssv550323, nssv550325, nssv550320, nssv550338, nssv550328, nssv550343, nssv550324, nssv550340, nssv550321, nssv550342, nssv550319, nssv550322, nssv550336, nssv550332, nssv550341, nssv550318, nssv550329, nssv550330, nssv550331, nssv550333, nssv550337, nssv550327, nssv550326, nssv550335
SamplesNA15727, NA11776, NA10494, NA17020, NA10976, NA15724, NA15728, NA15732, NA17052, P86GA, NA10970, NA15730, NA10967, NA16688, NA10969, NA15726, NA15725, NA17059, NA17015, NA17014, NA17051, NA10492, NA10979, NA17017, NA10971, NA15733
Known GenesMIR4632, TNFRSF1B, VPS13D
Method
AnalysisClones are defined as a single region if <250 kb from a neighbouring concordantly variant clone.
PlatformEichler Segmental Duplication BAC array
Comments
ReferenceSharp et al 2005
Pubmed ID15918152
Accession Number(s)nsv471622
Frequency
Sample Size48
Observed Gain1
Observed Loss25
Observed Complex0
Frequencyn/a


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