A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3481



Internal ID15548095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:26460916..26495488hg38UCSC Ensembl
Outerchr21:27833235..27867807hg19UCSC Ensembl
Outerchr21:26755106..26789678hg18UCSC Ensembl
Outerchr21:26755106..26789678hg17UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg385458
hg195458
hg185458
hg175458
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3071
SamplesNA18555
Known GenesCYYR1
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)nsv3481
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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