A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2226



Internal ID15200103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:22625705..22671482hg38UCSC Ensembl
Outerchr18:20205668..20251445hg19UCSC Ensembl
Outerchr18:18459666..18505443hg18UCSC Ensembl
Outerchr18:18459666..18505443hg17UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg3845778
hg1945778
hg1845778
hg1745778
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6748
SamplesNA12156
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)nsv2226
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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