A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1039



Internal ID15545602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:49955551..49980890hg38UCSC Ensembl
Outerchr13:50529687..50555026hg19UCSC Ensembl
Outerchr13:49427688..49453027hg18UCSC Ensembl
Outerchr13:49427688..49453027hg17UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3825723
hg1925723
hg1825723
hg1725723
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1144, nssv2035
SamplesNA18555, NA19240
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)nsv1039
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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