A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4563



Internal ID15539290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:46026042..46046932hg38UCSC Ensembl
Outerchr21:47445956..47466846hg19UCSC Ensembl
Outerchr21:46270384..46291274hg18UCSC Ensembl
Outerchr21:46270384..46291274hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg385558
hg195558
hg185558
hg175558
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3544
Supporting Variants
SamplesNA12878
Known Genes
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)nssv4563
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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