A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4194



Internal ID15548879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:641527..663423hg38UCSC Ensembl
Outerchr4:635316..657212hg19UCSC Ensembl
Outerchr4:625316..647212hg18UCSC Ensembl
Outerchr4:625316..647212hg17UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3821897
hg1921897
hg1821897
hg1721897
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv363
SamplesNA19240
Known GenesPDE6B
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)nsv4194
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