A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4553



Internal ID15539280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:19097496..19123661hg38UCSC Ensembl
Outerchr21:20469814..20495979hg19UCSC Ensembl
Outerchr21:19391685..19417850hg18UCSC Ensembl
Outerchr21:19391685..19417850hg17UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg3813579
hg1913579
hg1813579
hg1713579
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3472
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)nssv4553
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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