A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3651



Internal ID15201596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:45403708..45435552hg38UCSC Ensembl
Outerchr22:45799588..45831432hg19UCSC Ensembl
Outerchr22:44178252..44210096hg18UCSC Ensembl
Outerchr22:44120125..44151969hg17UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg387438
hg197438
hg187438
hg177438
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5932
SamplesNA19129
Known GenesRIBC2, SMC1B
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)nsv3651
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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