A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2291



Internal ID15546854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:48659613..48685659hg38UCSC Ensembl
Outerchr18:46185984..46212030hg19UCSC Ensembl
Outerchr18:44439982..44466028hg18UCSC Ensembl
Outerchr18:44439982..44466028hg17UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg385602
hg195602
hg185602
hg175602
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7396, nssv2981, nssv5700
SamplesNA12156, NA18555, NA19129
Known GenesCTIF, MIR4743
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)nsv2291
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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