A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1630



Internal ID15198753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:19474078..19509227hg38UCSC Ensembl
Outerchr22:19461601..19496750hg19UCSC Ensembl
Outerchr22:17841601..17876750hg18UCSC Ensembl
Outerchr22:17836155..17871304hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg385813
hg195813
hg185813
hg175813
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3558
Supporting Variants
SamplesNA19240
Known GenesCDC45, UFD1L
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)nssv1630
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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