A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3459



Internal ID15548070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:15321045..15356251hg38UCSC Ensembl
Outerchr21:16693364..16728570hg19UCSC Ensembl
Outerchr21:15615235..15650441hg18UCSC Ensembl
Outerchr21:15615235..15650441hg17UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg384543
hg194543
hg184543
hg174543
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4551
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)nsv3459
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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