A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5474



Internal ID15543998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:50470434..50514782hg38UCSC Ensembl
Outerchr13:51044570..51088918hg19UCSC Ensembl
Outerchr13:49942571..49986919hg18UCSC Ensembl
Outerchr13:49942571..49986919hg17UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3844349
hg1944349
hg1844349
hg1744349
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv1040
Supporting Variants
SamplesNA19129
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)nssv5474
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