A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv830525



Internal ID6156249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:89242546..89441330hg19UCSC Ensembl
Outerchr1:89015134..89213918hg18UCSC Ensembl
Outerchr1:88954567..89153351hg17UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv1447717, nssv1447728
Samples
Known GenesCCBL2, GTF2B, PKN2
Method
Analysis
PlatformSMRT Whole Genome Tile Path BAC CGH Array
Comments
ReferenceWong_et_al_2007
Pubmed ID17160897
Accession Number(s)nsv830525
Frequency
Sample Size95
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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