A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10322



Internal ID15195790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:36018163..36050737hg38UCSC Ensembl
Outerchr22:36414211..36446785hg19UCSC Ensembl
Outerchr22:34744157..34776731hg18UCSC Ensembl
Outerchr22:34738711..34771285hg17UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg386925
hg196925
hg186925
hg176925
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3614
Supporting Variants
SamplesNA18956
Known GenesRBFOX2
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)nssv10322
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer