A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3544



Internal ID15548164
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 Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4563
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)nsv3544
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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