A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3591



Internal ID15201530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:29948219..29992908hg38UCSC Ensembl
Outerchr22:30344208..30388897hg19UCSC Ensembl
Outerchr22:28674208..28718897hg18UCSC Ensembl
Outerchr22:28668762..28713451hg17UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3844690
hg1944690
hg1844690
hg1744690
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7738
SamplesNA12156
Known GenesMTMR3
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)nsv3591
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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