A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3473



Internal ID15548086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:19440169..19478877hg38UCSC Ensembl
Outerchr21:20812486..20851194hg19UCSC Ensembl
Outerchr21:19734357..19773065hg18UCSC Ensembl
Outerchr21:19734357..19773065hg17UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg3838709
hg1938709
hg1838709
hg1738709
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5896
SamplesNA19129
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)nsv3473
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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