A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1642



Internal ID15198740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:35731175..35761709hg38UCSC Ensembl
Outerchr22:36127222..36157756hg19UCSC Ensembl
Outerchr22:34457168..34487702hg18UCSC Ensembl
Outerchr22:34451722..34482256hg17UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg386946
hg196946
hg186946
hg176946
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3612
Supporting Variants
SamplesNA19240
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)nssv1642
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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