A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4560



Internal ID15539287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:41236509..41271050hg38UCSC Ensembl
Outerchr21:42608436..42642977hg19UCSC Ensembl
Outerchr21:41530306..41564847hg18UCSC Ensembl
Outerchr21:41530306..41564847hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg385209
hg195209
hg185209
hg175209
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3528
Supporting Variants
SamplesNA12878
Known GenesBACE2
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)nssv4560
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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