A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv830255



Internal ID6155979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:33929612..34109265hg19UCSC Ensembl
Outerchr5:33965369..34145022hg18UCSC Ensembl
Outerchr5:33965369..34145022hg17UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1444372
Samples
Known GenesAMACR, C1QTNF3, C1QTNF3-AMACR, RXFP3, SLC45A2
Method
Analysis
PlatformSMRT Whole Genome Tile Path BAC CGH Array
Comments
ReferenceWong_et_al_2007
Pubmed ID17160897
Accession Number(s)nsv830255
Frequency
Sample Size95
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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