A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2294



Internal ID15200171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:49470841..49492546hg38UCSC Ensembl
Outerchr18:46997211..47018916hg19UCSC Ensembl
Outerchr18:45251209..45272914hg18UCSC Ensembl
Outerchr18:45251209..45272914hg17UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3821706
hg1921706
hg1821706
hg1721706
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1407
SamplesNA19240
Known GenesC18orf32, MIR1539, RPL17, RPL17-C18orf32, SNORD58A, SNORD58B, SNORD58C
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)nsv2294
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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