A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3577



Internal ID5090596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:24202037..24237372hg19UCSC Ensembl
Outerchr22:22532037..22567372hg18UCSC Ensembl
Outerchr22:22526591..22561926hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg195652
hg185652
hg175652
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1638
SamplesNA19240
Known GenesLOC284889, MIF, SLC2A11
Method
AnalysisSample level sites were merged to generate a set of non-redundant variant regions. Two non-redundant inversion variants (chr 2 positions 89438708-89655419 and 89958869-91208466) were corrected from the original publication for coordinates and associated sample-level data.
PlatformCapillary
Comments
ReferenceKidd et al 2008
Pubmed ID18451855
Accession Number(s)nsv3577
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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