A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5699



Internal ID15543725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:47028287..47043355hg38UCSC Ensembl
Outerchr18:44554658..44569726hg19UCSC Ensembl
Outerchr18:42808656..42823724hg18UCSC Ensembl
Outerchr18:42808656..42823724hg17UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3813907
hg1913907
hg1813907
hg1713907
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2284
Supporting Variants
SamplesNA19129
Known GenesKATNAL2, TCEB3B, TCEB3C, TCEB3CL
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)nssv5699
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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