A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3560



Internal ID15201496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:20004631..20038746hg38UCSC Ensembl
Outerchr22:19992154..20026269hg19UCSC Ensembl
Outerchr22:18372154..18406269hg18UCSC Ensembl
Outerchr22:18366708..18400823hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg385314
hg195314
hg185314
hg175314
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7731
SamplesNA12156
Known GenesARVCF, MIR185, TANGO2
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)nsv3560
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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