A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2353



Internal ID15546916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:73601890..73646561hg38UCSC Ensembl
Outerchr18:71269125..71313796hg19UCSC Ensembl
Outerchr18:69420105..69464776hg18UCSC Ensembl
Outerchr18:69420105..69464776hg17UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg3844672
hg1944672
hg1844672
hg1744672
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7413
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)nsv2353
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer