A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1227



Internal ID5088407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:29237054..29270833hg19UCSC Ensembl
Outerchr14:28306805..28340584hg18UCSC Ensembl
Outerchr14:28306805..28340584hg17UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg195651
hg185651
hg175651
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv9180
SamplesNA12156
Known GenesC14orf23, FOXG1
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)nsv1227
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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