A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3529



Internal ID15548147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:41615566..41646826hg38UCSC Ensembl
Outerchr21:43035726..43066986hg19UCSC Ensembl
Outerchr21:41908795..41940055hg18UCSC Ensembl
Outerchr21:41908795..41940055hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg388468
hg198468
hg188468
hg178468
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4561
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)nsv3529
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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