A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5933



Internal ID15543442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:46362552..46379945hg38UCSC Ensembl
Outerchr22:46758449..46775842hg19UCSC Ensembl
Outerchr22:45137113..45154506hg18UCSC Ensembl
Outerchr22:45078968..45096361hg17UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg385906
hg195906
hg185906
hg175906
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3652
Supporting Variants
SamplesNA19129
Known GenesCELSR1
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)nssv5933
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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