A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2253



Internal ID15546816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:35714648..35725860hg38UCSC Ensembl
Outerchr18:33294612..33305824hg19UCSC Ensembl
Outerchr18:31548610..31559822hg18UCSC Ensembl
Outerchr18:31548610..31559822hg17UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg3811213
hg1911213
hg1811213
hg1711213
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4642
SamplesNA19129
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)nsv2253
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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