A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2272



Internal ID8513817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:44678516..44723338hg38UCSC Ensembl
Outerchr18:42258481..42303303hg19UCSC Ensembl
Outerchr18:40512479..40557301hg18UCSC Ensembl
Outerchr18:40512479..40557301hg17UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3844823
hg1944823
hg1844823
hg1744823
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7388
SamplesNA12156
Known GenesSETBP1
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)nsv2272
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