A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4540



Internal ID15549260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:147309441..147354626hg38UCSC Ensembl
Outerchr4:148230593..148275778hg19UCSC Ensembl
Outerchr4:148450043..148495228hg18UCSC Ensembl
Outerchr4:148588198..148633383hg17UCSC Ensembl
Cytoband4q31.22
Allele length
AssemblyAllele length
hg3845186
hg1945186
hg1845186
hg1745186
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8010
SamplesNA12156
Known Genes
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)nsv4540
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