A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212



Internal ID5086992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:233390930..233428822hg19UCSC Ensembl
Outerchr2:233099174..233137066hg18UCSC Ensembl
Outerchr2:233216435..233254327hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg195634
hg185634
hg175634
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv7630
SamplesNA12156
Known GenesCHRND, CHRNG, EIF4E2, TIGD1
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)nsv3212
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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