A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv830537



Internal ID6156261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:89256067..89406078hg19UCSC Ensembl
Outerchr1:89028655..89178666hg18UCSC Ensembl
Outerchr1:88968088..89118099hg17UCSC Ensembl
Cytoband1p22.2
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 Variantsnssv1447740
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)nsv830537
Frequency
Sample Size95
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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