A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2220



Internal ID15546783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:21474598..21519415hg38UCSC Ensembl
Outerchr18:19054559..19099376hg19UCSC Ensembl
Outerchr18:17308557..17353374hg18UCSC Ensembl
Outerchr18:17308557..17353374hg17UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg3844818
hg1944818
hg1844818
hg1744818
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7370
SamplesNA12156
Known GenesGREB1L
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)nsv2220
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