A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2463



Internal ID5087693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:33785845..33804488hg19UCSC Ensembl
Outerchr19:38477685..38496328hg18UCSC Ensembl
Outerchr19:38477685..38496328hg17UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg194957
hg184957
hg174957
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv4353
SamplesNA12878
Known GenesCEBPA, LOC80054
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)nsv2463
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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