A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4323



Internal ID15539050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:47026909..47032759hg38UCSC Ensembl
Outerchr18:44553280..44559130hg19UCSC Ensembl
Outerchr18:42807278..42813128hg18UCSC Ensembl
Outerchr18:42807278..42813128hg17UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3813747
hg1913747
hg1813747
hg1713747
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2284
Supporting Variants
SamplesNA12878
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)nssv4323
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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