A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3564



Internal ID15548186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:21780847..21812216hg38UCSC Ensembl
Outerchr22:22135136..22166505hg19UCSC Ensembl
Outerchr22:20465136..20496505hg18UCSC Ensembl
Outerchr22:20459690..20491059hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg387912
hg197912
hg187912
hg177912
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5923
SamplesNA19129
Known GenesMAPK1
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)nsv3564
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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