A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2060



Internal ID15541343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:20054701..20089513hg38UCSC Ensembl
Outerchr14:20522860..20557672hg19UCSC Ensembl
Outerchr14:19592700..19627512hg18UCSC Ensembl
Outerchr14:19592700..19627512hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3834813
hg1934813
hg1834813
hg1734813
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1202
Supporting Variants
SamplesNA18555
Known GenesOR4L1
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)nssv2060
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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