A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243



Internal ID15201147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:161421645..161507103hg38UCSC Ensembl
Outerchr1:161391435..161476893hg19UCSC Ensembl
Outerchr1:159658059..159743517hg18UCSC Ensembl
Outerchr1:158204508..158289948hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3885459
hg1985459
hg1885459
hg1785441
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10301, nssv10294, nssv1635, nssv4777
SamplesNA18956, NA19240, NA19129
Known GenesFCGR2A
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)nsv3243
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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