A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2279



Internal ID15546842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:46412841..46445665hg38UCSC Ensembl
Outerchr18:43992804..44025628hg19UCSC Ensembl
Outerchr18:42246802..42279626hg18UCSC Ensembl
Outerchr18:42246802..42279626hg17UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg386612
hg196612
hg186612
hg176612
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6756
SamplesNA12156
Known GenesRNF165
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)nsv2279
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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