A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2271



Internal ID15546834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:44208867..44253615hg38UCSC Ensembl
Outerchr18:41788832..41833580hg19UCSC Ensembl
Outerchr18:40042830..40087578hg18UCSC Ensembl
Outerchr18:40042830..40087578hg17UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3844749
hg1944749
hg1844749
hg1744749
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7387
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)nsv2271
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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