A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3133



Internal ID15201026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:207754229..207818655hg38UCSC Ensembl
Outerchr2:208618953..208683379hg19UCSC Ensembl
Outerchr2:208327198..208391624hg18UCSC Ensembl
Outerchr2:208444459..208508885hg17UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg385440
hg195440
hg185440
hg175440
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5845, nssv1568
SamplesNA19240, NA19129
Known GenesCCNYL1, FZD5, MIR4775
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)nsv3133
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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