A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv834493



Internal ID6160217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:191811373..191974240hg19UCSC Ensembl
Outerchr2:191519618..191682485hg18UCSC Ensembl
Outerchr2:191636879..191799746hg17UCSC Ensembl
Cytoband2q32.2
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 Variantsnssv1442461
Samples
Known GenesGLS, STAT1, STAT4
Method
Analysis
PlatformSMRT Whole Genome Tile Path BAC CGH Array
Comments
ReferenceWong_et_al_2007
Pubmed ID17160897
Accession Number(s)nsv834493
Frequency
Sample Size95
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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