A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2189



Internal ID15541472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:11499826..11544210hg38UCSC Ensembl
Outerchr18:11499825..11544209hg19UCSC Ensembl
Outerchr18:11489825..11534209hg18UCSC Ensembl
Outerchr18:11489825..11534209hg17UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3844385
hg1944385
hg1844385
hg1744385
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2204
Supporting Variants
SamplesNA18555
Known Genes
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)nssv2189
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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