A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3593



Internal ID15201532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:30309991..30355133hg38UCSC Ensembl
Outerchr22:30705980..30751122hg19UCSC Ensembl
Outerchr22:29035980..29081122hg18UCSC Ensembl
Outerchr22:29030534..29075676hg17UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3845143
hg1945143
hg1845143
hg1745143
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7739
SamplesNA12156
Known GenesSF3A1, TBC1D10A
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)nsv3593
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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