A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3464



Internal ID15548076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:16705939..16750770hg38UCSC Ensembl
Outerchr21:18078258..18123089hg19UCSC Ensembl
Outerchr21:17000129..17044960hg18UCSC Ensembl
Outerchr21:17000129..17044960hg17UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg3844832
hg1944832
hg1844832
hg1744832
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7708
SamplesNA12156
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)nsv3464
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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