A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1227



Internal ID8512772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:28767848..28801627hg38UCSC Ensembl
Outerchr14:29237054..29270833hg19UCSC Ensembl
Outerchr14:28306805..28340584hg18UCSC Ensembl
Outerchr14:28306805..28340584hg17UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg385651
hg195651
hg185651
hg175651
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9180
SamplesNA12156
Known GenesC14orf23, FOXG1
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv1227
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer