A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1824



Internal ID15194422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:248480346..248524770hg38UCSC Ensembl
Outerchr1:248643647..248688071hg19UCSC Ensembl
Outerchr1:246710270..246754694hg18UCSC Ensembl
Outerchr1:244969688..245014112hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3844425
hg1944425
hg1844425
hg1744425
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5354
Supporting Variants
SamplesNA18555
Known GenesOR2G6, OR2T5
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)nssv1824
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