A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3590



Internal ID15201529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:29770034..29790199hg38UCSC Ensembl
Outerchr22:30166023..30186188hg19UCSC Ensembl
Outerchr22:28496023..28516188hg18UCSC Ensembl
Outerchr22:28490577..28510742hg17UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3810620
hg1910620
hg1810620
hg1710620
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5929
SamplesNA19129
Known GenesASCC2, UQCR10
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)nsv3590
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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