A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1307



Internal ID5089713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:64742037..64787315hg19UCSC Ensembl
Outerchr14:63811790..63857068hg18UCSC Ensembl
Outerchr14:63811790..63857068hg17UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg195840
hg185840
hg175840
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv9205
SamplesNA12156
Known GenesESR2
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)nsv1307
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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