A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2204



Internal ID15546767
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 StatusM
Merged Variants
Supporting Variantsnssv2189
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)nsv2204
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