A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5011



Internal ID15203092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:134083161..134116977hg38UCSC Ensembl
Outerchr5:133418852..133452668hg19UCSC Ensembl
Outerchr5:133446751..133480567hg18UCSC Ensembl
Outerchr5:133446751..133480567hg17UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg387176
hg197176
hg187176
hg177176
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv497
SamplesNA19240
Known GenesTCF7
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)nsv5011
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