A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5698



Internal ID15543726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:47025606..47026738hg38UCSC Ensembl
Outerchr18:44551977..44553109hg19UCSC Ensembl
Outerchr18:42805975..42807107hg18UCSC Ensembl
Outerchr18:42805975..42807107hg17UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3831828
hg1931828
hg1831828
hg1731828
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2284
Supporting Variants
SamplesNA19129
Known GenesKATNAL2
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)nssv5698
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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